Variant Details

Variant: nsv428430

Internal ID

18278194

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr3:195478549..196102555	hg38	UCSC Ensembl
Inner	chr3:195201080..195829426	hg19	UCSC Ensembl
Inner	chr3:196682369..197313823	hg18	UCSC Ensembl

Cytoband

3q29

Allele length

Assembly	Allele length
hg38	624007
hg19	628347
hg18	631455

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv454333, nssv454325, nssv454316, nssv454326, nssv454327, nssv454328, nssv454311, nssv454318, nssv454329, nssv454307, nssv454319, nssv454324, nssv454331, nssv454306, nssv454309, nssv454334, nssv454315, nssv454320, nssv454312, nssv454317, nssv454335, nssv454313, nssv454314, nssv454322

Samples

HGDP00462, HGDP01093, HGDP00463, HGDP01089, NA18916, NA18498, HGDP00476, NA19189, HGDP00460, HGDP00473, HGDP00986, HGDP00467, NA19181, NA19113, NA19257, NA19225, NA19108, NA19147, HGDP00984, HGDP00472, HGDP00474, NA19096, HGDP00449

Known Genes

APOD, MIR5692C1, MIR570, MIR6829, MUC20, MUC4, PPP1R2, SDHAP1, SDHAP2, TFRC, TNK2

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)

nsv428430

Frequency

Sample Size	62
Observed Gain	2
Observed Loss	21
Observed Complex	0
Frequency	n/a