A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv517318

Internal ID

15444611

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr4:86053909..86068874	hg38	UCSC Ensembl
Inner	chr4:86975062..86990027	hg19	UCSC Ensembl
Inner	chr4:87194086..87209051	hg18	UCSC Ensembl
Inner	chr4:87332241..87347206	hg17	UCSC Ensembl

Cytoband

4q21.3

Allele length

Assembly	Allele length
hg38	14966
hg19	14966
hg18	14966
hg17	14966

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

nssv658829, nssv661963, nssv660796, nssv664044, nssv692877, nssv675417, nssv675646, nssv663496, nssv661424, nssv677099, nssv672143, nssv658859, nssv672456, nssv671404, nssv693838, nssv664958, nssv688349, nssv691836, nssv675450, nssv683596, nssv689631, nssv662212, nssv666597, nssv655409, nssv685747, nssv664713, nssv663526, nssv658893, nssv657508, nssv656367, nssv666701, nssv681671, nssv656412, nssv683696, nssv668058, nssv666327, nssv660980, nssv676509, nssv674783, nssv684339, nssv678538, nssv693610, nssv687896, nssv654105, nssv677030, nssv682853, nssv669977, nssv654971, nssv658600, nssv666657, nssv676018, nssv660442, nssv688230, nssv670566, nssv655480, nssv654295, nssv658265, nssv660999, nssv688723, nssv686428, nssv656954, nssv663050, nssv690164, nssv671133, nssv684169, nssv674102, nssv658507, nssv652605, nssv652122, nssv656844, nssv668644, nssv661614, nssv656810, nssv688269, nssv670291, nssv677820, nssv665134, nssv661178, nssv659284, nssv675910, nssv669439, nssv676121, nssv674351, nssv665481, nssv665339, nssv664568, nssv665235, nssv689982, nssv682272, nssv678850, nssv653819, nssv675179, nssv655043, nssv694021, nssv670490

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	0
Observed Loss	95
Observed Complex	0
Frequency	n/a