View Full Version : Z41150: New SNP between R-L2 and R-Z49 on Bigtree

08-02-2016, 06:13 PM
Just noticed a new SNP between L2 and L2 subclades.


Big Tree: Information for Z41150
Lead With SNP: Z41150.

Upstream Blocks:
R-P312/S116 > Z40481 > ZZ11 > U152/S28 > L2/S139 > Z41150
Z49, DF90, A6454, S1565, BY4245, FGC22538, 2819179-A-G, FGC11577

21527519-T-TA Z41150 12A This mutation is an STR/homopolymer. The hg19 and hg38 reference sequences have 12A in a row, men with this mutation have 13. In BigY kits, it seems to show up as a mixture of ancestral and derived reads, but 1kG and FGC kits seem less ambiguous.

In my father's FGC results I have 10 reads. 5 T and 5 TA.
His BigY is 35 reads, 13 T and 22 TA.