Variant Details

Variant: nsv1160280

Internal ID

18955995

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr15:34408482..34538187	hg38	UCSC Ensembl
Outer	chr15:34403291..34538743	hg38	UCSC Ensembl
Inner	chr15:34700683..34830388	hg19	UCSC Ensembl
Outer	chr15:34695492..34830944	hg19	UCSC Ensembl

Cytoband

15q14

Allele length

Assembly	Allele length
hg38	135453
hg19	135453

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv4032236, nssv4032231, nssv4032235, nssv4032233, nssv4032234, nssv4032232, nssv4032230

Samples

Known Genes

GOLGA8A, GOLGA8B, MIR1233-1, MIR1233-2

Method

SNP array

Analysis

1) We applied common software Birdsuite to detect genome-wide CNVs; 2) we used our algorithm WinXPCNVer which is based on probe intensity to identify Tibetan specific CNV; 3) we further genotyped the discovered Tibetan specific CNV by K-means and manual observation.

Platform

Affymetrix SNP Array 6.0

Comments

Reference

Lou_et_al_2015

Pubmed ID

26073780

Accession Number(s)

nsv1160280

Frequency

Sample Size	369
Observed Gain	0
Observed Loss	7
Observed Complex	0
Frequency	n/a