A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv596839

Internal ID

16384248

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr5:1178396..1180452	hg38	UCSC Ensembl
Inner	chr5:1178511..1180567	hg19	UCSC Ensembl
Inner	chr5:1231511..1233567	hg18	UCSC Ensembl

Cytoband

5p15.33

Allele length

Assembly	Allele length
hg38	2057
hg19	2057
hg18	2057

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

nssv1021872, nssv1021850, nssv1021932, nssv1022064, nssv1021695, nssv1021853, nssv1021841, nssv1022087, nssv1021821, nssv1021854, nssv1021709, nssv1021924, nssv1021907, nssv1021895, nssv1021771, nssv1021983, nssv1022065, nssv1021732, nssv1022044, nssv1022034, nssv1021965, nssv1021865, nssv1022039, nssv1021971, nssv1021989, nssv1022028, nssv1021958, nssv1021785, nssv1021799, nssv1021882, nssv1021944, nssv1021786, nssv1021784, nssv1021995, nssv1021939, nssv1022083, nssv1021739, nssv1021968, nssv1021680, nssv1021796, nssv1021798, nssv1022059, nssv1021809, nssv1021776, nssv1021936, nssv1021883, nssv1021946, nssv1022050, nssv1022018, nssv1021775, nssv1022085, nssv1021951, nssv1021979, nssv1021928, nssv1021825, nssv1021823, nssv1021859, nssv1021868, nssv1021704, nssv1021700, nssv1021966, nssv1021749, nssv1021743, nssv1022062, nssv1021926, nssv1021682, nssv1021874, nssv1021889, nssv1021869, nssv1021886, nssv1021986, nssv1021985, nssv1021746, nssv1022067, nssv1021744, nssv1022055, nssv1021931, nssv1021909, nssv1021828, nssv1021707, nssv1021699, nssv1021930, nssv1021755, nssv1022063, nssv1021917, nssv1021715, nssv1021736, nssv1022080, nssv1021991, nssv1022012, nssv1021725, nssv1021959, nssv1021973, nssv1021920, nssv1022003, nssv1022033, nssv1021790, nssv1021918, nssv1021860, nssv1021817, nssv1021696, nssv1021783, nssv1021781, nssv1021734, nssv1021794, nssv1021893, nssv1021778, nssv1021710, nssv1021878, nssv1021702, nssv1022013, nssv1021904, nssv1021742, nssv1021681, nssv1021676, nssv1021770, nssv1022016, nssv1021758, nssv1022069, nssv1021890, nssv1021721, nssv1021997, nssv1022079, nssv1021762, nssv1021847, nssv1021923, nssv1021806, nssv1022002, nssv1021961, nssv1021972, nssv1021952, nssv1021948, nssv1021835, nssv1021738, nssv1022026, nssv1021901, nssv1022066, nssv1022047, nssv1022037, nssv1022025, nssv1021690, nssv1021899, nssv1021793, nssv1022004, nssv1021981, nssv1021984, nssv1021921, nssv1021910, nssv1021757, nssv1022070, nssv1021829, nssv1021731, nssv1021919, nssv1021824, nssv1021805, nssv1021795, nssv1021942, nssv1021813, nssv1022017, nssv1021711, nssv1021996, nssv1021760, nssv1021832, nssv1021977, nssv1021826, nssv1021963, nssv1021748, nssv1021873, nssv1022046, nssv1021900, nssv1022074, nssv1021692, nssv1021879, nssv1021834, nssv1022029, nssv1021792, nssv1021788, nssv1021993, nssv1021943, nssv1022060, nssv1021747, nssv1021887, nssv1021885, nssv1021807, nssv1022052, nssv1021908, nssv1021905, nssv1021777, nssv1021876, nssv1022008, nssv1021756, nssv1021712, nssv1021945, nssv1021730, nssv1021726, nssv1022053, nssv1021822, nssv1021990, nssv1021819, nssv1022076, nssv1021866, nssv1021911, nssv1022001, nssv1021812, nssv1022071, nssv1021787, nssv1021687, nssv1021852, nssv1022032, nssv1021935, nssv1021733, nssv1022021, nssv1021803, nssv1021987, nssv1021815, nssv1021728, nssv1022045, nssv1021810, nssv1021745, nssv1022048, nssv1021949, nssv1021934, nssv1021816, nssv1022075, nssv1021941, nssv1021735, nssv1021791, nssv1021752, nssv1021729, nssv1021999, nssv1021856, nssv1021802, nssv1021998, nssv1022041, nssv1022061, nssv1021774, nssv1022015, nssv1021913, nssv1021754, nssv1021888, nssv1021763, nssv1022031, nssv1021839, nssv1021714, nssv1021840, nssv1022082, nssv1022056, nssv1021954, nssv1021982, nssv1021782, nssv1021884, nssv1021838, nssv1021683, nssv1022000, nssv1021759, nssv1022005, nssv1021858, nssv1021849, nssv1021713, nssv1021848, nssv1021693, nssv1021811, nssv1022019, nssv1021750, nssv1022068, nssv1022057, nssv1021967, nssv1021933, nssv1021845, nssv1021691, nssv1021833, nssv1021947, nssv1021929, nssv1021864, nssv1021818, nssv1021740, nssv1021800, nssv1021717, nssv1022007, nssv1021891, nssv1022023, nssv1021994, nssv1022030, nssv1022073, nssv1021677, nssv1021686, nssv1022077, nssv1022086, nssv1021957, nssv1021974, nssv1021766, nssv1021727, nssv1021831, nssv1021722, nssv1021688, nssv1021830, nssv1021719, nssv1021897, nssv1021767, nssv1022006, nssv1021962, nssv1021940, nssv1021937, nssv1021953, nssv1021992, nssv1021964, nssv1021903, nssv1021898, nssv1021773, nssv1021694, nssv1021801, nssv1021724, nssv1022011, nssv1021797, nssv1022051, nssv1021988, nssv1022040, nssv1021881, nssv1021701, nssv1021808, nssv1021915, nssv1021896, nssv1021894, nssv1021862, nssv1022049, nssv1021892, nssv1021877, nssv1021914, nssv1021684, nssv1021780, nssv1021846, nssv1021837, nssv1021925, nssv1021814, nssv1021764, nssv1021723, nssv1021836, nssv1021741, nssv1021705, nssv1021698, nssv1021765, nssv1021789, nssv1022009, nssv1021718, nssv1021697, nssv1021922, nssv1021960, nssv1021751, nssv1021871, nssv1021980, nssv1021768, nssv1021969, nssv1021976, nssv1021950, nssv1022081, nssv1021867, nssv1021855, nssv1021772, nssv1021703, nssv1021779, nssv1021769, nssv1022010, nssv1021708, nssv1021978, nssv1022043, nssv1021737, nssv1022054, nssv1021906, nssv1022014, nssv1021956, nssv1021955, nssv1021851, nssv1021716, nssv1021863, nssv1022072, nssv1022024, nssv1021927, nssv1021842, nssv1021820, nssv1021679, nssv1022038, nssv1021685, nssv1021870, nssv1021843, nssv1021689, nssv1021678, nssv1021902, nssv1021706, nssv1022042, nssv1022022, nssv1021844, nssv1022035, nssv1021970, nssv1022036, nssv1022020, nssv1021804, nssv1021753, nssv1022058, nssv1021827, nssv1021720, nssv1022084, nssv1021880, nssv1021861, nssv1021875, nssv1022078, nssv1021975, nssv1021857, nssv1021761, nssv1021916, nssv1022027, nssv1021938, nssv1021912

Samples

Known Genes

Method

SNP array

Analysis

Illumina SNP array copy number analysis

Platform

Not reported

Comments

Reference

Cooper_et_al_2011

Pubmed ID

Accession Number(s)

Frequency

Sample Size	17421
Observed Gain	71
Observed Loss	341
Observed Complex	0
Frequency	n/a