Table 4.

Summary of MPS sequence variants showing sequences previously considered as non-variable flanking regions.

Y-STR	Allele	Observed #	General structure of alleles including variable flanking sequences	CE allele name designation	Examples in this study
DYS385a,b	canonical	193	AAGG[6]GAAA[n]	n	CEU-NA12716	CE11_AAGG[6]GAAA[11], CE14_AAGG[6]GAAA[14]
	variant	4	AAGG[5]GAAA[n]	n − 1	kun-m82	CE15_AAGG[5]GAAA[16], CE17_AAGG[5]GAAA[18]
	variant	2	AAGG[7]GAAA[n]	n + 1	TSI-NA20805	CE10_AAGG[6]GAAA[10], CE18_AAGG[7]GAAA[17]
	variant	2	AAGG[8]GAAA[n]	n + 2	bkl-46	CE15_AAGG[8]GAAA[13], CE16_AAGG[8]GAAA[14]
	variant		AAGG[9]GAAA[n]	n + 3	in [23]
DYS481	canonical	87	CTG[1]CTT[n]	n	CEU-NA12716	CE23_CTG[1]CTT[23]
	variant	9	CTG[2]CTT[n]	n + 1	tur-1	CE21_CTG[2]CTT[20]
	variant	4	CTG[0]CTT[n]	n − 1	bak-55	CE27_CTG[0]CTT[28]
DYS390	canonical	97	TAGA[n]CAGA[o]TAGA[p]CAGA[q]TAGA[2]	(n + o + p + q)	CEU-NA12716	CE24_TAGA[4]CAGA[1]TAGA[11]CAGA[8]TAGA[2]
	variant	2	TAGA[n]CAGA[o]TAGA[p]CAGA[q]TAGA[1]	(n + o + p + q) − 1	bhu-1150	CE24_TAGA[4]CAGA[1]TAGA[10]CAGA[10]TAGA[1]
	variant	1	TAGA[n]CAGA[o]TAGA[p]CAGA[q]TAGA[3]	(n + o + p + q) + 1	bav-55	CE24_TAGA[4]CAGA[1]TAGA[11]CAGA[7]TAGA[3]

Abbreviations: MPS, massively parallel sequencing; Y-STR, Y-chromosomal short tandem repeat; CE, capillary electrophoresis.

The most frequent allele variants are denoted ‘canonical’; repeat units that show additional polymorphism are shown in bold.