Discovery of large genomic inversions using long range information

BMC Genomics

Table 3 Valor predictions in the CEPH trio genomes using 10X Genomics data

Chromosome	Coordinates	NA12877	NA12878	NA12882	Length (bp)	Notes
chr2	87,255,585–88,046,375	x	x		790,790
chr2	110,616,644–111,256,595	x	x	x	639,951
chr2	130,871,965–131,973,790		x		1,101,825	HsInv0669^(p)
chr5	69,345,887–70,230,720	x	x	x	887,367	HsInv0690^(p)
chr5	175,375,683–177,323,033		x		1,948,505	HsInv0273^(p)
chr7	72,600,063–74,625,967	x	x		2,025,904
chr7	149,700,848–153,805,583	x	x		4,104,827	HsInv0493^(p)
chr8	8,004,167–12,382,355	x	x	x	4,379,883	HsInv0501, confirmed [51, 52]
chr9	38,936,292–40,159,168		x	x	1,222,876
chr9	42,455,835–43,044,083		x		588,248
chr15	22,680,455–28,680,554		x		6,000,099	HsInv0549, confirmed [53]
chr15	30,561,900–32,570,505		x	x	2,008,605	HsInv1049, confirmed^(v)
chr16	15,342,375–16,594,696		x	x	1,252,321	HsInv0363^(p)
chr16	16,696,143–18,748,024	x	x	x	2,051,881	HsInv0368, confirmed (this study)
chr16	21,771,066–22,591,511		x	x	820,445
chr17	18,315,380–20,436,125	x	x		2,121,780
chr17	28,978,332–30,399,013		x		1,420,681
chr17	34,775,632–36,258,018		x	x	1,482,386	HsInv1048, confirmed^(v)
chrY	6,238,807–9,635,568			x	3,400,156	confirmed [56]
chrY	25,590,628–28,369,119			x	2,781,421

Inversions detected using 10XG. Check marks denote that the inversion is found in the genome of the corresponding individual. Those inversions marked with ^(p) are listed as predicted and those marked with ^(v) are listed as validated in InvFEST

ISSN: 1471-2164