Variant Details

Variant: nsv428325

Internal ID

18278089

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr16:31817331..34031578	hg38	UCSC Ensembl
Inner	chr16:31828652..33834045	hg19	UCSC Ensembl
Inner	chr16:31736153..33741546	hg18	UCSC Ensembl

Cytoband

16p11.2

Allele length

Assembly	Allele length
hg38	2214248
hg19	2005394
hg18	2005394

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv453200, nssv453202, nssv453111, nssv453116, nssv453106, nssv453194, nssv453184, nssv453094, nssv453154, nssv453193, nssv453157, nssv453152, nssv453093, nssv453201, nssv453107, nssv453140, nssv453143, nssv453117, nssv453065, nssv453168, nssv453150, nssv453098, nssv453159, nssv453141, nssv453195, nssv453104, nssv453063, nssv453189, nssv453151, nssv453102, nssv453105, nssv453095, nssv453100, nssv453066, nssv453203, nssv453139, nssv453192, nssv453185, nssv453092, nssv453181, nssv453155, nssv453096, nssv453196, nssv453136, nssv453103, nssv453187, nssv453167, nssv453160, nssv453070, nssv453190, nssv453156, nssv453161, nssv453101, nssv453099, nssv453188

Samples

HGDP01087, HGDP00462, HGDP01093, HGDP00463, HGDP01088, HGDP01089, NA18916, NA18498, NA19189, HGDP00450, HGDP00473, HGDP00986, HGDP00467, NA19181, NA19113, NA19257, NA19225, NA19108, NA19147, HGDP01094, HGDP00984, HGDP00472, NA19096, HGDP00478, HGDP00449

Known Genes

HERC2P4, LOC390705, RNU6-76P, SLC6A10P, TP53TG3, TP53TG3B, TP53TG3C, TP53TG3D, ZNF267

Method

BAC aCGH

Analysis

Copy number variable segments were automatically detected using the CNVfinder algorithm (Fiegler et al. 2006).

Platform

Sanger H. sapiens Whole Genome Tile Path 28.7k v3

Comments

Reference

Perry_et_al_2008b

Pubmed ID

18775914

Accession Number(s)

nsv428325

Frequency

Sample Size	62
Observed Gain	20
Observed Loss	7
Observed Complex	0
Frequency	n/a