A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv515930

Internal ID

15442987

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr8:2182928..2739803	hg38	UCSC Ensembl
Inner	chr8:2131125..2597331	hg19	UCSC Ensembl
Inner	chr8:2118532..2584738	hg18	UCSC Ensembl
Inner	chr8:2118532..2584738	hg17	UCSC Ensembl

Cytoband

8p23.2

Allele length

Assembly	Allele length
hg38	556876
hg19	466207
hg18	466207
hg17	466207

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

nssv692502, nssv692391, nssv690142, nssv683441, nssv694848, nssv688586, nssv670443, nssv674992, nssv684309, nssv675383, nssv661259, nssv664296, nssv681452, nssv680219, nssv673522, nssv682915, nssv666807, nssv670976, nssv657124, nssv671953, nssv666171, nssv690228, nssv656503, nssv693948, nssv667436, nssv685896, nssv686375, nssv691928, nssv673523, nssv692826, nssv678112, nssv677416, nssv675325, nssv690141, nssv691212, nssv683968, nssv675516, nssv681067, nssv668767, nssv693508, nssv675066, nssv683442, nssv664269, nssv659363, nssv677415, nssv654511, nssv705757, nssv668766, nssv661260, nssv691213, nssv684235, nssv657224, nssv692231, nssv668797, nssv692882, nssv683012, nssv660297, nssv670898, nssv661393, nssv705280, nssv670975, nssv666912, nssv688316, nssv666037, nssv683011, nssv680254, nssv678856, nssv684585, nssv657374, nssv658648, nssv675123, nssv672275, nssv654512, nssv705092, nssv659583, nssv657122, nssv675324, nssv685897, nssv674599, nssv669895, nssv660296, nssv680330, nssv661394, nssv692230, nssv656504, nssv689253, nssv674185, nssv684584, nssv686244, nssv671579, nssv684554, nssv661002, nssv678113, nssv688587, nssv680218, nssv652308

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	43
Observed Loss	53
Observed Complex	0
Frequency	n/a