A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv1061600

Internal ID

19150819

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr22:15533098..15922838	hg38	UCSC Ensembl
Inner	chr22:16055171..16444865	hg19	UCSC Ensembl
Inner	chr22:14435171..14824865	hg18	UCSC Ensembl

Cytoband

22q11.1

Allele length

Assembly	Allele length
hg38	389741
hg19	389695
hg18	389695

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

nssv3589084, nssv3587864, nssv3589158, nssv3589095, nssv3731712, nssv3589145, nssv3589090, nssv3587899, nssv3587881, nssv3589086, nssv3589114, nssv3587852, nssv3589045, nssv3587875, nssv3587863, nssv3587814, nssv3589057, nssv3587877, nssv3587837, nssv3589108, nssv3731736, nssv3731738, nssv3589103, nssv3587859, nssv3589101, nssv3589097, nssv3587813, nssv3731744, nssv3589141, nssv3587825, nssv3587861, nssv3731734, nssv3587886, nssv3589122, nssv3587822, nssv3731693, nssv3587888, nssv3587809, nssv3731731, nssv3589077, nssv3589139, nssv3589035, nssv3589021, nssv3589104, nssv3589073, nssv3589059, nssv3589054, nssv3587870, nssv3587860, nssv3587839, nssv3589065, nssv3587902, nssv3587897, nssv3587865, nssv3589124, nssv3589135, nssv3587905, nssv3587844, nssv3589085, nssv3589025, nssv3589029, nssv3589075, nssv3731715, nssv3731703, nssv3589153, nssv3589099, nssv3587879, nssv3731735, nssv3587867, nssv3589133, nssv3589043, nssv3589129, nssv3589081, nssv3587909, nssv3589161, nssv3589146, nssv3731704, nssv3731711, nssv3587851, nssv3589126, nssv3589020, nssv3731697, nssv3589112, nssv3587817, nssv3731706, nssv3589159, nssv3731739, nssv3589034, nssv3589046, nssv3589061, nssv3587836, nssv3589051, nssv3589055, nssv3589056, nssv3587900, nssv3587826, nssv3589119, nssv3587853, nssv3587856, nssv3587848, nssv3589082, nssv3587855, nssv3589115, nssv3589066, nssv3589096, nssv3589157, nssv3587832, nssv3589116, nssv3587804, nssv3589053, nssv3589160, nssv3587819, nssv3587845, nssv3731717, nssv3731733, nssv3731742, nssv3589050, nssv3589058, nssv3589078, nssv3589052, nssv3589076, nssv3589089, nssv3589087, nssv3589062, nssv3589088, nssv3587842, nssv3589049, nssv3589044, nssv3589037, nssv3587891, nssv3731721, nssv3733566, nssv3731713, nssv3589148, nssv3731730, nssv3589019, nssv3587890, nssv3589121, nssv3731724, nssv3587883, nssv3587810, nssv3589131, nssv3589102, nssv3731727, nssv3587840, nssv3587820, nssv3587806, nssv3733561, nssv3589109, nssv3589105, nssv3589154, nssv3587904, nssv3587910, nssv3731718, nssv3587894, nssv3587854, nssv3731746, nssv3731726, nssv3589026, nssv3587857, nssv3731695, nssv3589106, nssv3587866, nssv3731710, nssv3589074, nssv3589022, nssv3587903, nssv3589150, nssv3587812, nssv3589023, nssv3587887, nssv3731709, nssv3589151, nssv3589144, nssv3731698, nssv3731728, nssv3731740, nssv3731747, nssv3589140, nssv3731720, nssv3587869, nssv3589047, nssv3589038, nssv3731700, nssv3589079, nssv3589039, nssv3587805, nssv3589027, nssv3731748, nssv3589083, nssv3587808, nssv3589149, nssv3589143, nssv3587874, nssv3587872, nssv3587816, nssv3589033, nssv3587892, nssv3587868, nssv3733565, nssv3589111, nssv3587821, nssv3589071, nssv3587824, nssv3589147, nssv3589042, nssv3733560, nssv3587898, nssv3587843, nssv3589118, nssv3589067, nssv3589070, nssv3587811, nssv3587849, nssv3587846, nssv3587884, nssv3731707, nssv3731696, nssv3587893, nssv3731743, nssv3731694, nssv3589064, nssv3589163, nssv3589127, nssv3733562, nssv3587850, nssv3589091, nssv3589136, nssv3587896, nssv3589152, nssv3589137, nssv3589068, nssv3587882, nssv3589155, nssv3731701, nssv3587823, nssv3589098, nssv3589041, nssv3587841, nssv3587829, nssv3587803, nssv3587911, nssv3589040, nssv3589142, nssv3587878, nssv3587802, nssv3589032, nssv3589113, nssv3589024, nssv3587901, nssv3733564, nssv3587871, nssv3587838, nssv3587876, nssv3589069, nssv3589028, nssv3587908, nssv3587834, nssv3589110, nssv3589036, nssv3731732, nssv3589092, nssv3589063, nssv3731714, nssv3589130, nssv3731722, nssv3733563, nssv3587828, nssv3589031, nssv3731741, nssv3587818, nssv3731719, nssv3589030, nssv3587895, nssv3731708, nssv3589060, nssv3589125, nssv3587906, nssv3589156, nssv3587831, nssv3587885, nssv3731737, nssv3589100, nssv3589072, nssv3587880, nssv3589107, nssv3587907, nssv3587847, nssv3731723, nssv3587827, nssv3589138, nssv3731745, nssv3731729, nssv3731699, nssv3587873, nssv3731692, nssv3589132, nssv3731705, nssv3589080, nssv3589117, nssv3587830, nssv3587858, nssv3589093, nssv3731702, nssv3589123, nssv3587807, nssv3589128, nssv3589120, nssv3589094, nssv3587833, nssv3731725, nssv3587889, nssv3589048, nssv3589134, nssv3587862, nssv3731716, nssv3587815, nssv3589162, nssv3587835

Samples

Known Genes

BMS1P17, BMS1P18, POTEH

Method

SNP array

Analysis

Affymetrix SNP array copy number analysis

Platform

Affymetrix SNP Array 6.0

Comments

Reference

Coe_et_al_2014

Pubmed ID

Accession Number(s)

Frequency

Sample Size	11257
Observed Gain	296
Observed Loss	23
Observed Complex	0
Frequency	n/a