Variant Details

Variant: nsv1160718

Internal ID

18957739

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr21:43550456..43552931	hg38	UCSC Ensembl
Outer	chr21:43548172..43553786	hg38	UCSC Ensembl
Inner	chr21:44970337..44972812	hg19	UCSC Ensembl
Outer	chr21:44968053..44973667	hg19	UCSC Ensembl

Cytoband

21q22.3

Allele length

Assembly	Allele length
hg38	5615
hg19	5615

Variant Type

OTHER complex

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv4040554, nssv4040542, nssv4040558, nssv4040539, nssv4040475, nssv4040495, nssv4040490, nssv4040571, nssv4040504, nssv4040535, nssv4040531, nssv4040530, nssv4040520, nssv4040562, nssv4040524, nssv4040545, nssv4040568, nssv4040559, nssv4040486, nssv4040534, nssv4040497, nssv4040482, nssv4040525, nssv4040484, nssv4040551, nssv4040469, nssv4040488, nssv4040472, nssv4040538, nssv4040494, nssv4040553, nssv4040503, nssv4040493, nssv4040566, nssv4040561, nssv4040540, nssv4040516, nssv4040548, nssv4040549, nssv4040501, nssv4040514, nssv4040491, nssv4040543, nssv4040511, nssv4040474, nssv4040546, nssv4040515, nssv4040523, nssv4040509, nssv4040527, nssv4040499, nssv4040563, nssv4040481, nssv4040555, nssv4040560, nssv4040565, nssv4040547, nssv4040572, nssv4040550, nssv4040473, nssv4040496, nssv4040470, nssv4040508, nssv4040556, nssv4040483, nssv4040541, nssv4040532, nssv4040521, nssv4040512, nssv4040507, nssv4040480, nssv4040536, nssv4040505, nssv4040485, nssv4040557, nssv4040510, nssv4040564, nssv4040529, nssv4040518, nssv4040500, nssv4040552, nssv4040498, nssv4040517, nssv4040502, nssv4040537, nssv4040513, nssv4040570, nssv4040476, nssv4040506, nssv4040533, nssv4040487, nssv4040567, nssv4040479, nssv4040477, nssv4040569, nssv4040528, nssv4040522, nssv4040526, nssv4040544, nssv4040489, nssv4040519, nssv4040471, nssv4040492, nssv4040478

Samples

Known Genes

HSF2BP

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)

nsv1160718

Frequency

Sample Size	369
Observed Gain	1
Observed Loss	103
Observed Complex	0
Frequency	n/a