Variant Details

Variant: nsv428296

Internal ID

18278060

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr15:19954442..22472558	hg38	UCSC Ensembl
Inner	chr15:20159695..22876631	hg19	UCSC Ensembl
Inner	chr15:18419709..20428072	hg18	UCSC Ensembl

Cytoband

15q11.1

Allele length

Assembly	Allele length
hg38	2518117
hg19	2716937
hg18	2008364

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv452555, nssv452539, nssv452560, nssv452597, nssv452562, nssv452548, nssv452534, nssv452546, nssv452585, nssv452537, nssv452545, nssv452557, nssv452561, nssv452547, nssv452527, nssv452565, nssv452556, nssv452551, nssv452540, nssv452521, nssv452596, nssv452543, nssv452559, nssv452538, nssv452586, nssv452590, nssv452529, nssv452541, nssv452591, nssv452544, nssv452535, nssv452530, nssv452552, nssv452588, nssv452558, nssv452566, nssv452563, nssv452592, nssv452549, nssv452550, nssv452595, nssv452528, nssv452536, nssv452554

Samples

HGDP01087, HGDP00462, HGDP01093, HGDP00463, HGDP01088, HGDP01089, NA18916, NA18498, NA19189, HGDP00460, HGDP00450, HGDP00473, HGDP00986, HGDP00467, NA19181, NA19113, NA19257, NA19225, NA19108, NA19147, HGDP01094, HGDP00984, HGDP00472, HGDP00474, HGDP00471, NA19096, HGDP01086, HGDP00449

Known Genes

CHEK2P2, CT60, CXADRP2, GOLGA6L1, GOLGA6L6, GOLGA8CP, GOLGA8DP, HERC2P3, LOC646214, LOC727924, MIR4509-1, MIR4509-2, MIR4509-3, NBEAP1, NF1P2, OR4M2, OR4N3P, OR4N4, POTEB, POTEB2, REREP3, TUBGCP5

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)

nsv428296

Frequency

Sample Size	62
Observed Gain	17
Observed Loss	14
Observed Complex	0
Frequency	n/a