The Big Y-500 is a Y-chromosome direct paternal line test. We have designed it to explore deep ancestral links on our common paternal tree. This test examines thousands of known branch markers as well as millions of places where there may be new branch markers. Additionally, the Big Y-500 tests 450 Y-STR markers and provides you with at least 389 short tandem repeat (STR) allele value results on your Y-DNA Y-STR Results page comprising Panel 6 (112-561). The Big Y-500 also includes your Y-111 STR results.

Note: For customers who have purchased the previous Big Y test without a Y-111 test, your Big Y-500 results will only include your Y-DNA Panel 6 (112-561) STR results. You will need to purchase a Y-111 upgrade to receive your Y-111 STR results.

The Big Y-500 test is intended for expert users with an interest in advancing science. It may also be of great interest to genealogy researchers of a specific lineage. However, it is not a test for matching you to one or more men with the same surname in the way that our other Y-STR tests do, such as Y-37, Y-67 or Y-111.

Note: Click on the blue boxes (BluePlusSign) below for information on each topic.

Where is my Big Y500 - Results Page?

To access the Big Y500 – Results page:

  1. Sign in to your myFTDNA account.
  2. In the upper-left corner, on the menu bar, click myFTDNA > myDNA > Big Y500 > Results.

Where are my Big Y-500 STR values?

Your Big Y-500 STR values are displayed on your Y-DNA – Standard Y-STR Values page.

To access the Y-DNA – Standard Y-STR Values page:

  1. Sign in to your myFTDNA account.
  2. In the upper-left corner, on the menu bar, click myFTDNA > myDNA > Big Y500 > Y-STR Results.

Big Y500 – Results

Click image for a closer look.

Big Y500 - Results – Named Variants

The Named Variants tab displays your single nucleotide polymorphisms (SNPs) that are on the list of ~70,000 known SNPs against which Big Y-500 data is compared.

Click image for a closer look.

Columns

The Named Variants tab contains the following columns.

Note: You can use the sort arrow located at the upper-right corner of each column to sort the data in ascending or descending order.

SNP Name

The SNP Name column displays the names of known SNP markers. Some SNP markers may have multiple names according to different publications and sources.

SNP Name Column

To search for a specific SNP, enter the name or partial name of the SNP in the SNP Name Search box at the top of the column.

How to view a SNP on the Y-Chromosome Browsing Tool

In the SNP Name column, click on the SNP that you want to view. The Y-Chromosome Browsing Tool opens in a new window displaying the location of the SNP.

SNP Postion on Y-Chromosome Browser Tool

The SNP you selected is displayed in pink with a downward arrow pointing to the position of the SNP. The other pink locations display your other nearby SNP positions.

You can click on any of your SNP positions to see more information for that SNP.

Derived?

The values in this column indicate whether or not the called genotype is in the derived state. When a SNP is in the derived state, it means that you are “positive” for this SNP. When the SNP is not in the derived state, it means that the SNP is ancestral. The following values are possible:

  • Yes (+) – Indicates that the particular SNP is derived.
  • No (-) – Indicates that the particular SNP is not derived (ancestral).
  • ? – Indicates that we did not get good coverage on the SNP, therefore, we were unable to confirm whether or not the called genotype is derived.

To filter SNPs by whether or not they are derived, ancestral, or unconfirmed, click the drop-down list at the top of the column, and select Yes (+)No (-), or ?.

Derived Column

Note: By default, this column is set to Yes (+).

Note: By default, this column is set to Yes (+).

On Y-Tree?

The values in this column indicate whether or not the SNP exists on our Y-DNA haplotree. Your known SNPs are automatically placed on the haplotree. The following values are possible in this column:

  • Yes – Indicates the SNP exists on our Y-DNA haplotree.
  • No – Indicates the SNP does not exist on our Y-DNA haplotree.

To filter SNPs by whether or not your SNP exists on the Y-DNA haplotree, click the drop-down list at the top of the column, and select Yes or No.

On Y-Tree Column

Reference

This column displays the base indicated by the GRCh38 human reference genome, which is maintained by the Genome Reference Consortium. The following values are possible:

  • A – Adenine
  • C – Cytosine
  • T – Thymine
  • G – Guanine

To filter SNPs by reference base, click the drop-down list at the top of the column, and select ACTor G.

Reference Column

Genotype   

This column displays your base at the given position. The following values are possible:

  • A – Adenine
  • C – Cytosine
  • T – Thymine
  • G – Guanine
  • - Indicates that we did not get good coverage on the SNP, therefore, we were unable to confirm your base at the given position.

To filter SNPs by genotype, click on the drop-down list at the top of the column, and select A, C, TG or ?.

Genotype Column

Confidence  

This column indicates how confident we are in the accuracy of the data. The following values are possible in this column:

  • High – Indicates we have a high level of confidence that your data is accurate.
  • Medium – Indicates that we have a mid-level of confidence that your data is accurate.
  • Unknown – Indicates that we do not have good evidence at a position to call a genotype.

To filter SNPs by confidence, click on the drop-down list at the top of the column, and select HighMedium, or Unknown.

ConfidenceColumn_Oct2017

Big Y500 - Results – Unnamed Variants

The Unnamed Variants tab displays your SNP markers that are not on the list of ~70,000 known SNPs. These markers may or may not be unique to you as an individual. Men in related lineages may share some Unnamed Variants. As men from distantly related lineages test, SNP markers may be moved from Unnamed Variants to Named Variants

Click image for a closer look.

Columns

The Unnamed Variants tab contains the following columns.

Note: You can use the sort arrow located at the upper-right corner of each column to sort the data in ascending or descending order.

Position

The Position column displays the position (location) of the unnamed variant on the Y-chromosome with respect to the GRCh38 human reference genome, which is maintained by the Genome Reference Consortium.

PostionColumn_Oct2017

To search for a specific by position, in the Position Search box at the top of the column, enter the position or part of the position of the unnamed variant.

How to view an unnamed variant on the Y-Chromosome Browsing Tool

In the Position column, click on the position of the unnamed variant that you want to view. The Y-Chromosome Browsing Tool opens in a new window displaying the location of the SNP.

The position you selected is displayed in pink with a downward arrow pointing to the position of the unnamed variant. The other pink locations display your other nearby unnamed variant locations.

You can click on any of your unnamed variant positions to see more information for that unnamed variant:

 Reference  

This column displays the base indicated by the GRCh38 human reference genome, which is maintained by the Genome Reference Consortium. The following values are possible:

  • A – Adenine
  • C – Cytosine
  • T – Thymine
  • G – Guanine

To filter unnamed variants by reference base, click the drop-down list at the top of the column, and select ACT, or G.

Reference Column

Genotype

This column displays your base at the given position. The following values are possible:

  • A – Adenine
  • C – Cytosine
  • T – Thymine
  • G – Guanine
  • - Indicates that we did not get good coverage on the SNP, therefore, we were unable to confirm your base at the given position.

To filter unnamed variants by genotype, click on the drop-down box at the top of the column, and select ACTG or ?.

Genotype Column

Confidence   

This column indicates how confident we are in the accuracy of the data. The following values are possible in this column:

  • High – Indicates we have a high level of confidence that your data is accurate.
  • Medium – Indicates that we have a mid-level of confidence that your data is accurate.
  • Unknown – Indicates that we do not have good evidence at a position to call a genotype.

To filter SNPs by confidence, click on the drop-down list at the top of the column, and select HighMedium, or Unknown.

Note: By default, this column is set to High.

Confidence Column

Big Y500 - Results – Matching

The Matching tab displays your terminal SNP matches. Your terminal SNP determines the terminal (final) subbranch (on the Y-DNA haplotree) to which you belong.

A person is considered a match if they have 30 or fewer differences in SNPs with you, and their haplogroup is downstream from your haplogroup or downstream from your four closest parent haplogroups.

Click image for a closer look.

Terminal SNP Guide

On the Matching tab you will see a mini haplotree this is the Terminal SNP Guide.

Terminal SNP Tool

 

The Terminal SNP Guide contains the following information:

  • Your haplogroup is located at the bottom of the guide and highlighted in green. In the example image, the terminal SNP is J-BY101. J being your haplogroup and BY101 being your terminal SNP.
  • The four line items above your terminal SNP are the four parent clades (haplogroups). In the example image, these are J-L823, J-ZS1706, J-Z18216, and J-ZS1711.
  • The numbers on the right represent the number of matches you have for each clade. The further away a match is from your terminal SNP, the more distantly related they are to you.

Note: The information displayed in the image above is for sample purposes. Your haplogroup, terminal SNP, etc. will most likely be different.

How to display your matches

To display your matches for your terminal SNP or any of the parent clades, click on the number at the far right of the line item.

For example, in the image above, if you want to view your matches for your terminal SNP, click the number 2 to the right of J-BY101. If you want to view your matches for J-L823, you would click the number 6 to the right of that line.

Columns

The Matching tab contains the following columns.

Note: You can use the sort arrow located at the upper-right corner of each column to sort the data in ascending or descending order.

Match Name  

This column displays the names of your matches.

Match Name Column

You can perform the following tasks in this column:

  • Search – To search for a specific match, at the top of the column, enter their name or partial name in the Name Search box.
  • Match Profile – To display a profile of your match, click on their name. The Profile window is displayed. The Profile window displays a brief profile of your match.
  • Email – If you have an installed email client (e.g., Outlook), to email your match, click on the envelope icon displayed next to your match.
  • Note – To add a note about your match, click on the callout icon (Note Icon) displayed next to your match. The Notes dialog box is displayed.
    • Once a note is added, the callout icon is green. To view a note, click on the green callout icon. To edit a note, click on the green callout icon, and click on the text of the note. The dialog box is expanded, and you can edit or remove the text in the note.

Non-Matching Variants

This column displays the known variants (SNPs) within your subclade that you and the specified match do not share.

 Non-Matching Variants Column

To display your matches that do not share a specific known variant (SNP), enter the name or partial name of the known variant in the SNP Name Search box at the top of the column.

Shared Variants

This column displays the known variants (SNPs) within your subclade that you and the specified match share.

SharedVariantsColumn_Oct2017

To display additional information about the variants you share with a specific match, in this column, click on the shared variants value. The Shared Variants window is displayed.

The Shared Variants window displays information about the variants you share and do not share with the selected match.

Shared Variants Window

The Shared Variants window contains the following columns:

Position – Displays the position (location) of the variant on the Y chromosome with respect to the GRCh38 human reference genome, which is maintained by the Genome Reference Consortium.

Reference – Displays the base indicated by the GRCh38 human reference genome, which is maintained by the Genome Reference Consortium. The following values are possible:

  • A – Adenine
  • C – Cytosine
  • T – Thymine
  • G – Guanine

Genotype – Displays the base at the given position. The following values are possible:

  • A – Adenine
  • C – Cytosine
  • T – Thymine
  • G – Guanine
  • - Indicates that we did not get good coverage on the SNP, therefore, we were unable to confirm your base at the given position.

Confidence – Indicates how confident we are in the accuracy of the data. The following values are possible:

  • High – Indicates we have a high-level of confidence that your data is accurate.
  • Medium – Indicates that we have a mid-level of confidence that your data is accurate.
  • Unknown - Indicates that we did not get good coverage on the SNP, therefore, we do not have good evidence at the position to call a genotype.

 Match Date  

This column displays the date you and the specific match were matched.

To filter matches by match date, enter the date or partial date in the Match Date Search box at the top of the column.

Match Date Column

How to download a file of your Big Y-500 results

There are two ways to download your results. At the upper-right corner of the Big Y500 – Results page the following options are available:

  • Export (CSV) – Click to download all of your Big Y-500 SNP information to a .CSV file.
  • Download Raw Data – Click to download a .ZIP file of your results.

Frequently Asked Questions

What are the technical details of the Big Y-500 test?
The Big Y-500 test uses next-generation sequencing to reveal genetic variations across the Y chromosome:

  • Targeted Non-recombining Y-DNA sequencing.
  • Illumina Novaseq.
  • 55X to 80X average coverage.
  • Around 11.5 to 12.5 million base-pairs of reliably mapped positions of non-recombining Y chromosome.
  • Provides 389 STR value results in addition to our standard 111 STRs.
  • Analyzed using proprietary analysis technology for improved variant calls.

All samples are processed in-house using our custom laboratory methods and informatics. Your sample never leaves our company and is never shared with outside vendors.

Who can order the Big Y-500 test?

Any male can order the Big Y-500 test. However, we do ask that you consider carefully before ordering.

  • A high-quality sample is needed for Big Y-500. Therefore, the person tested should be willing and able to provide a new DNA sample if needed.
  • All customers are strongly encouraged to seek the guidance of a Y-DNA haplogroup project administrator before ordering.
  • Most results interpretation for Big Y-500 will come from volunteer project administrators, including Y-DNA haplogroup administrators.
How do I order the Big Y-500 test?

Existing FamilyTreeDNA Male Customer 

To order the Big Y-500:

  1. Sign in to your myFTDNA account.
  2. Click the blue Upgrade button in the upper-right corner of the page.
  3. In the Father’s Line section, look for Big Y-500, and click the blue price button displayed on the right side of the page.
  4. The Shopping Cart is displayed with your order. Complete the checkout process.

New Male Customer

To order the Big Y-500:

  1. Go to the FamilyTreeDNA home page.
  2. In the upper-left corner of the page on the menu bar, hover your cursor over DNA Tests to display the drop-down list.
  3.  Do one of the following:
    1. Click on All Tests to display the DNA Tests page.
    2. Scroll down to the Father’s Line section.
    3. In the Father’s Line section, look for Big Y-500, and click the blue price button displayed on the right side of the page.

    OR

    1. Click on Y-DNA to display the Y-DNA Tests page.
    2. Scroll down to the Compare section. You will see several boxes that display the various Y-DNA tests.
    3. In the Big Y-500 box, click the Order Now button.
  4. The Shopping Cart is displayed with your order. Complete the checkout process.
I ordered Big Y-500 to get my result for a specific SNP or STR. Why didn't I get a result for that one SNP or STR?
Due to the exploratory nature of Big Y-500, we cannot guarantee results for specific, known SNPs and STRs because results will vary from sample to sample.

Single specific SNPs are better ordered as such.

Since the STRs are sequenced the same way as the SNPs, we cannot guarantee coverage for specific STRs. However, tests that pass quality control will receive at least 389 sequenced STRs in additional to the first 111 STRs. Due to the exploratory nature of this test, the 389 STRs you receive may vary from the 389 someone else receives.

How soon will I have my Big Y-500 results?
We process samples in first come first serve order. If a sample doesn’t pass quality control, we will place it in the next set of results to be processed, as long as we have enough DNA sample. If we require an additional sample, we will send a new test kit and place the new sample in the first set to be processed when it is returned. We typically have an 8 to 10 week average turn around time from date of sample receipt.
Do I need to submit a new sample? How much DNA sample is used?
In many cases, we can use your existing stored DNA sample. If there is not enough sample available, we will send you a new collection kit to the address listed for the kit in myFTDNA. For those who wish to order a test for an individual who cannot provide another sample, please contact customer service for options.
Who will analyze my results for new SNPs?
Sequencing is performed at our state-of-the-art genomics lab, and the data is analyzed by our genome informatics team.
What distinguishes Big Y-500 from other Y-DNA SNP testing, like Geno 2.0?
Both Big Y-500 and Geno 2.0 test for thousands of paternal lineage branch markers (SNPs). Unlike Geno 2.0 and related technologies, Big Y-500 is able to detect new branch markers that are unique to your paternal lineage, surname, or even you.

Geno 2.0 is microarray chip based and programmed for specific SNPs. Big Y-500 is a next-generation sequence-based test.

How are Big Y-500 raw results formatted?
The .CSV and .ZIP files are available for download on your results page.