A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv516163

Internal ID

15443456

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr2:11059845..11065295	hg38	UCSC Ensembl
Inner	chr2:11199971..11205421	hg19	UCSC Ensembl
Inner	chr2:11117422..11122872	hg18	UCSC Ensembl
Inner	chr2:11150569..11156019	hg17	UCSC Ensembl

Cytoband

2p25.1

Allele length

Assembly	Allele length
hg38	5451
hg19	5451
hg18	5451
hg17	5451

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

nssv668729, nssv660032, nssv666254, nssv669802, nssv665588, nssv662904, nssv665612, nssv680708, nssv683282, nssv674682, nssv690287, nssv661516, nssv655262, nssv675443, nssv680837, nssv674563, nssv651822, nssv692449, nssv654757, nssv677770, nssv676688, nssv672178, nssv652575, nssv679470, nssv697839, nssv664082, nssv664917, nssv676745, nssv669432, nssv692002, nssv683189, nssv677921, nssv657814, nssv662324, nssv669935, nssv692970, nssv684529, nssv657690, nssv663442, nssv675002, nssv661169, nssv654918, nssv684599, nssv682656, nssv682703, nssv686766, nssv667380, nssv685373, nssv665208, nssv674635, nssv692804, nssv685514, nssv678753, nssv670716, nssv651885, nssv678300, nssv689123, nssv674748, nssv692754, nssv652930, nssv671124, nssv672214, nssv667286, nssv688263, nssv653338, nssv685665, nssv692938, nssv665902, nssv657662, nssv684733, nssv668511, nssv682132, nssv665271, nssv688338, nssv658974, nssv653504, nssv678434, nssv684715, nssv661296, nssv675310, nssv652176, nssv669013, nssv684573, nssv679227, nssv662079, nssv691751, nssv661840, nssv681833, nssv666102, nssv678988, nssv682752, nssv655118, nssv664824, nssv657241, nssv656041, nssv656887, nssv661442, nssv658496, nssv677731, nssv683649, nssv668313, nssv659358, nssv683078, nssv670003, nssv659426, nssv679621, nssv667574, nssv688223, nssv664552, nssv688660, nssv678598, nssv669558, nssv675089, nssv669277, nssv663649, nssv675525, nssv678476, nssv652246, nssv691983, nssv673827, nssv671055

Samples

Known Genes

Method

SNP array

Analysis

Sample-level CNVs

Platform

GPL6434

Comments

Reference

Shaikh_et_al_2009

Pubmed ID

Accession Number(s)

Frequency

Sample Size	2026
Observed Gain	115
Observed Loss	6
Observed Complex	0
Frequency	n/a