Variant Details

Variant: nsv1161687

Internal ID

18957716

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:155219369..155231273	hg38	UCSC Ensembl
Outer	chr1:155210675..155241876	hg38	UCSC Ensembl
Inner	chr1:155189160..155201064	hg19	UCSC Ensembl
Outer	chr1:155180466..155211667	hg19	UCSC Ensembl

Cytoband

1q22

Allele length

Assembly	Allele length
hg38	31202
hg19	31202

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv4029917

Samples

Known Genes

GBA, GBAP1, MTX1

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)

nsv1161687

Frequency

Sample Size	369
Observed Gain	0
Observed Loss	1
Observed Complex	0
Frequency	n/a