Variant Details

Variant: nsv428303

Internal ID

18278067

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr15:34250820..34696046	hg38	UCSC Ensembl
Inner	chr15:34543021..34988247	hg19	UCSC Ensembl
Inner	chr15:32330313..32775539	hg18	UCSC Ensembl

Cytoband

15q14

Allele length

Assembly	Allele length
hg38	445227
hg19	445227
hg18	445227

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv452711, nssv452706, nssv452697, nssv452695, nssv452700, nssv452684, nssv452705, nssv452702, nssv452689, nssv452696, nssv452683, nssv452699, nssv452693, nssv452688, nssv452713, nssv452701, nssv452690, nssv452712, nssv452708, nssv452685, nssv452694, nssv452691, nssv452692, nssv452707, nssv452710

Samples

HGDP00450, HGDP00463, HGDP00984, NA19257, NA19108, NA19147, HGDP00462, HGDP01093, HGDP01094, NA19096, NA18916, NA19181, HGDP01089, NA19189, HGDP00467, NA18498, HGDP00986, HGDP01088, HGDP01086, NA19113, HGDP00460, HGDP00473, HGDP00449, HGDP00472, HGDP00471

Known Genes

GOLGA8A, GOLGA8B, LPCAT4, MIR1233-1, MIR1233-2, MIR5588, NOP10, NUTM1, SLC12A6

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)

nsv428303

Frequency

Sample Size	62
Observed Gain	25
Observed Loss	0
Observed Complex	0
Frequency	n/a