A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv1058837

Internal ID

19148056

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr17:19596411..19635122	hg38	UCSC Ensembl
Inner	chr17:19499724..19538435	hg19	UCSC Ensembl
Inner	chr17:19440316..19479027	hg18	UCSC Ensembl

Cytoband

17p11.2

Allele length

Assembly	Allele length
hg38	38712
hg19	38712
hg18	38712

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

nssv3719999, nssv3560751, nssv3560793, nssv3560834, nssv3560795, nssv3560805, nssv3719992, nssv3560821, nssv3560783, nssv3560772, nssv3560765, nssv3560723, nssv3560734, nssv3560742, nssv3560736, nssv3720005, nssv3560743, nssv3560788, nssv3560785, nssv3560747, nssv3719990, nssv3560757, nssv3560777, nssv3720003, nssv3720004, nssv3560820, nssv3560682, nssv3560827, nssv3560782, nssv3560712, nssv3560754, nssv3560686, nssv3719991, nssv3560753, nssv3560843, nssv3560786, nssv3560762, nssv3560811, nssv3560774, nssv3560678, nssv3560764, nssv3560746, nssv3560688, nssv3560691, nssv3560752, nssv3560844, nssv3560779, nssv3560829, nssv3560737, nssv3560831, nssv3560826, nssv3560720, nssv3560713, nssv3560728, nssv3560725, nssv3560733, nssv3560815, nssv3560729, nssv3560715, nssv3560814, nssv3560714, nssv3560698, nssv3560823, nssv3560787, nssv3560706, nssv3560704, nssv3560744, nssv3560770, nssv3560758, nssv3719998, nssv3560780, nssv3560702, nssv3560804, nssv3560705, nssv3560699, nssv3560718, nssv3560740, nssv3560797, nssv3560689, nssv3719993, nssv3560817, nssv3560799, nssv3560812, nssv3719995, nssv3560810, nssv3560828, nssv3560773, nssv3560824, nssv3560816, nssv3560769, nssv3719989, nssv3560759, nssv3560745, nssv3720000, nssv3560807, nssv3560835, nssv3560731, nssv3720001, nssv3560800, nssv3560717, nssv3560840, nssv3560685, nssv3560818, nssv3719997, nssv3560813, nssv3560721, nssv3560719, nssv3560806, nssv3560830, nssv3560693, nssv3560808, nssv3560784, nssv3560724, nssv3560708, nssv3560756, nssv3719996, nssv3560766, nssv3560692, nssv3560801, nssv3560760, nssv3560695, nssv3560727, nssv3560790, nssv3720002, nssv3560710, nssv3719988, nssv3560697, nssv3560822, nssv3560833, nssv3560700, nssv3560809, nssv3560791, nssv3560716, nssv3560679, nssv3560803, nssv3560735, nssv3560837, nssv3560832, nssv3560794, nssv3560778, nssv3560739, nssv3560690, nssv3560781, nssv3560802, nssv3560680, nssv3560767, nssv3560789, nssv3560687, nssv3560701, nssv3560796, nssv3560771, nssv3560683, nssv3560722, nssv3560763, nssv3560842, nssv3560703, nssv3560755, nssv3560711, nssv3560681, nssv3560798, nssv3560694, nssv3560696, nssv3560750, nssv3560748, nssv3560776, nssv3560839, nssv3560749, nssv3560707, nssv3560792, nssv3560838, nssv3560768, nssv3560819, nssv3560825, nssv3560732, nssv3719994, nssv3560775, nssv3560761, nssv3560841, nssv3560741, nssv3560726, nssv3560709, nssv3560684, nssv3560836, nssv3560738, nssv3560730, nssv3560677

Samples

Known Genes

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	0
Observed Loss	186
Observed Complex	0
Frequency	n/a