A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv516595

Internal ID

15443888

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr14:34647083..34662656	hg38	UCSC Ensembl
Inner	chr14:35116289..35131862	hg19	UCSC Ensembl
Inner	chr14:34186040..34201613	hg18	UCSC Ensembl
Inner	chr14:34186040..34201613	hg17	UCSC Ensembl

Cytoband

14q13.1

Allele length

Assembly	Allele length
hg38	15574
hg19	15574
hg18	15574
hg17	15574

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

nssv667120, nssv663470, nssv691472, nssv673584, nssv667563, nssv685091, nssv676736, nssv653595, nssv667341, nssv672809, nssv683208, nssv686945, nssv689037, nssv678066, nssv704265, nssv675897, nssv668809, nssv687321, nssv683641, nssv684993, nssv681328, nssv674971, nssv663518, nssv672917, nssv678092, nssv684905, nssv686337, nssv658711, nssv679399, nssv684272, nssv669962, nssv666416, nssv687722, nssv675281, nssv667519, nssv686865, nssv686864, nssv689573, nssv652595, nssv681371, nssv668666, nssv655584, nssv663124, nssv669501, nssv663883, nssv693931, nssv654951, nssv680065, nssv659418, nssv678269, nssv673784, nssv652552, nssv689212, nssv671119, nssv664945, nssv679854, nssv660889, nssv686490, nssv669656, nssv677526, nssv686218, nssv693374, nssv673393, nssv679873, nssv658123, nssv662139, nssv667084, nssv680698, nssv665665, nssv678788, nssv674249, nssv669238, nssv656351, nssv682343, nssv689748, nssv689332, nssv665221, nssv683777, nssv677571, nssv685200, nssv655300, nssv653820, nssv652774, nssv687259, nssv670508, nssv662589, nssv670041, nssv658931, nssv686705, nssv686833, nssv685870, nssv682741, nssv682591

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	93
Observed Complex	0
Frequency	n/a