SUMMARY OF SNP (JULY, 2012)

Predicted Breadth of SNP (speculative estimate of positive submissions) = 20 = 10 x 95 % (11 of 11) + 9 x 90 % (10 of 11) + 1 x 20 % (9 of 11) + 2 x 20 % (8 of 11) + 5 x 10 % (7 of 11) + 33 x 5 % (6 of 11). At or above 10 of 11 fingerprint matches, all three submissions have tested positive to date and includes several surnames: Brock (1), Ellis (1) and Gontaut (1). Between 7 of 11 matches and 9 of 11, no submissions have been tested to date. At six of 11 matches, all three submissions have tested negative to date.

The marker YCA-IIa < = 18 appears to a defining marker of the L96 fingerprint. However, the transitional area has not been tested to date and YCA-IIa <= 18 could be post L96 creation. Further testing of lower fingerprint matches is encouraged to determine the true breadth of L96 and if YCA-IIa <= 18 is post L96 creation.

Scope of Testing within Fingerprint: Below average - Only 14 % (3 of 22) of submissions at 70 % or higher matches have been tested to date (and all three have tested positive). Between 50 % and 70 % matches, only 8 % (3 of 38) have been tested (and all three have tested negative to date). Even with extensive testing via deep clade testing, very few of the 60 testing candidates have been tested to date. Until further tested is completed, the true breadth of L96 can not be determined.

Note that the number of known testing candidates appears to fairly typical for L21 SNPs where the number of testing candidates declines down to 70 % matches and then sees a sharp rise as non-L96 submissions dominate testing candidates. This trend suggests minimal overlap of L96 submissions with non-L96 submissions at higher fingerprint matches. L96 tests positive down to 70 % matches and only tests negative below 70 % matches. However, the transitional fingerprint matches have not been well tested to date. Note that L96 has many deep clade tested submissions and only a fraction of the submissions below 50 % matches are listed below.

Summary of L96 testing (July, 2012)

Classification of SNP: Near Private - Predicted breath of 20 positive submissions.

Scope of Testing within Fingerprint: Below Average - only 3 tested out of 50 possible candidates (over 50 % match of DNA fingerprint).

Source of SNP: L96 was discovered prior to the first L96 WTY.

Year that SNP was discovered: Estimated 2009.

Dominant Surnames (positive): Brock (1), Ellis (1) and Gontaut (1).

Number of Positive Tests: Three known (currently all at or above 91 % matches - but several lower matches could also test positive).

Number of Negative Broad Tests (below 50 % match): Over 400 (mostly deep clade tests).

Number of Negative Tests within Fingerprint (50 % to 70 % matches): Three known.

Possible Untested Candidates (over 50 % match): Around 47 (around 50 % will be negative).

Pending Tests (over 50 % match): None known.

ISOGG Status - Prove relationship of L96 to other L21 SNPs

All requirements of proving L96 position on the haplotree have been met. Note: L96 has already qualified for the ISOGG haplotree.

ISOGG Status - Prove genetic and surname diversity of L96

L96 satisfies the genetic diversity requirement and the surname diversity requirement for inclusion on the ISOGG haplotree. Two submissions of L96 must have at least a genetic distance of 10 (15 % x 67 markers = 10). Note: L96 has already qualified for the ISOGG haplotree.

ISOGG Status - Prove L96 is not the son of existing DF13 sons:

Note that L96 has already qualified for the ISOGG haplotree.

ISOGG Status - Prove L96 is not the father of existing DF13 sons:

It is very unlikely that L96 is the father of broader existing sons of L21. However, it is a requirement for ISOGG qualification. Note that L96 has already qualified for the ISOGG haplotree.

DNA FINGERPRINT & SIGNATURES

L96 Fingerprint (L21 Off Modal Mutations):

Markers 1 to 37: 391 <= 10, 389-2 <= 28, 447 <= 24, 449 <= 29, YCAIIa <=18, 576 >= 19 and 570 >= 19 (7 mutations).

Markers 38 to 67: 537 >= 11, 557 >= 17, 481 >= 23 and 520 >= 21 (4 mutations).

L96 Signature (L21 Plus): X96?-1121 (L21 Off Modal Mutations):

Markers 1 to 37: 537 = 11, 520 = 21, 391 = 10, 464c = 15 and 570 >= 18 (5 mutations).

Markers 38 to 67: None listed (no mutations).

Note: Does not include key marker YCA-IIa < 18. Also, 464c = 15 does not appear to track the L96 fingerprint. There are significant differences between the L96 signature and L96 fingerprint. With only three positive submissions tested, the MRCA of L96 could require additional refinements as more testing reveal the true L96 MRCA.

BOUNDARY CONDITION TESTING

Most Distant Positive Test Known (67 markers)
(from MRCA of positive submissions - not WTY):

Gontaut, FTDNA ID 176268, 10 of 11 match and GD = 6

Closest Negative Test Known (67 markers)
(from MRCA of positive submissions - not WTY):

Jukonen, FTDNA ID 176554, only 6 of 11 match and GD = 15
Sullivan, FTDNA ID 83039, only 5 of 11 match and GD = 13.