Variant Details

Variant: nsv1160453

Internal ID

19303809

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr17:15140609..15151185	hg38	UCSC Ensembl
Outer	chr17:15134796..15155674	hg38	UCSC Ensembl
Inner	chr17:15043926..15054502	hg19	UCSC Ensembl
Outer	chr17:15038113..15058991	hg19	UCSC Ensembl

Cytoband

17p12

Allele length

Assembly	Allele length
hg38	20879
hg19	20879

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv4039059, nssv4039053, nssv4039064, nssv4039021, nssv4039036, nssv4039055, nssv4039044, nssv4039060, nssv4039043, nssv4039027, nssv4039033, nssv4039047, nssv4039050, nssv4039030, nssv4039037, nssv4039041, nssv4039019, nssv4039056, nssv4039025, nssv4039032, nssv4039051, nssv4039038, nssv4039049, nssv4039063, nssv4039035, nssv4039022, nssv4039054, nssv4039026, nssv4039062, nssv4039042, nssv4039065, nssv4039023, nssv4039048, nssv4039061, nssv4039029, nssv4039052, nssv4039040, nssv4039034, nssv4039031, nssv4039039, nssv4039024, nssv4039028, nssv4039045, nssv4039046, nssv4039020, nssv4039057, nssv4039058

Samples

Known Genes

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)

nsv1160453

Frequency

Sample Size	369
Observed Gain	0
Observed Loss	47
Observed Complex	0
Frequency	n/a