Variant Details

Variant: nsv1160865

Internal ID

19304463

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr2:130036310..130065662	hg38	UCSC Ensembl
Outer	chr2:130036283..130067885	hg38	UCSC Ensembl
Inner	chr2:130793883..130823235	hg19	UCSC Ensembl
Outer	chr2:130793856..130825458	hg19	UCSC Ensembl

Cytoband

2q21.1

Allele length

Assembly	Allele length
hg38	31603
hg19	31603

Variant Type

OTHER complex

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv4027271, nssv4027288, nssv4027333, nssv4027348, nssv4027342, nssv4027343, nssv4027313, nssv4027282, nssv4027330, nssv4027276, nssv4027277, nssv4027332, nssv4027337, nssv4027354, nssv4027291, nssv4027266, nssv4027270, nssv4027294, nssv4027334, nssv4027273, nssv4027339, nssv4027309, nssv4027336, nssv4027352, nssv4027278, nssv4027344, nssv4027355, nssv4027280, nssv4027300, nssv4027302, nssv4027274, nssv4027315, nssv4027340, nssv4027345, nssv4027293, nssv4027287, nssv4027325, nssv4027331, nssv4027338, nssv4027314, nssv4027347, nssv4027292, nssv4027295, nssv4027285, nssv4027326, nssv4027284, nssv4027329, nssv4027311, nssv4027298, nssv4027341, nssv4027296, nssv4027356, nssv4027316, nssv4027281, nssv4027275, nssv4027307, nssv4027328, nssv4027306, nssv4027327, nssv4027305, nssv4027321, nssv4027310, nssv4027320, nssv4027283, nssv4027350, nssv4027267, nssv4027319, nssv4027272, nssv4027322, nssv4027299, nssv4027308, nssv4027349, nssv4027269, nssv4027303, nssv4027351, nssv4027304, nssv4027286, nssv4027289, nssv4027318, nssv4027317, nssv4027353, nssv4027297

Samples

Known Genes

FAR2P1

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)

nsv1160865

Frequency

Sample Size	369
Observed Gain	2
Observed Loss	80
Observed Complex	0
Frequency	n/a