Variant Details

Variant: nsv1161372

Internal ID

19304473

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr6:32463775..32605994	hg38	UCSC Ensembl
Outer	chr6:32463515..32606237	hg38	UCSC Ensembl
Inner	chr6:32431552..32573771	hg19	UCSC Ensembl
Outer	chr6:32431292..32574014	hg19	UCSC Ensembl

Cytoband

6p21.32

Allele length

Assembly	Allele length
hg38	142723
hg19	142723

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv4034582, nssv4034544, nssv4034509, nssv4034562, nssv4034514, nssv4034573, nssv4034503, nssv4034571, nssv4034554, nssv4034543, nssv4034506, nssv4034584, nssv4034591, nssv4034574, nssv4034551, nssv4034587, nssv4034535, nssv4034526, nssv4034550, nssv4034570, nssv4034560, nssv4034559, nssv4034523, nssv4034553, nssv4034561, nssv4034581, nssv4034539, nssv4034567, nssv4034500, nssv4034530, nssv4034568, nssv4034529, nssv4034507, nssv4034534, nssv4034557, nssv4034542, nssv4034566, nssv4034537, nssv4034540, nssv4034501, nssv4034590, nssv4034575, nssv4034532, nssv4034492, nssv4034493, nssv4034494, nssv4034589, nssv4034579, nssv4034515, nssv4034516, nssv4034548, nssv4034558, nssv4034541, nssv4034549, nssv4034517, nssv4034525, nssv4034585, nssv4034586, nssv4034556, nssv4034497, nssv4034495, nssv4034545, nssv4034510, nssv4034552, nssv4034563, nssv4034519, nssv4034595, nssv4034572, nssv4034577, nssv4034522, nssv4034528, nssv4034513, nssv4034547, nssv4034597, nssv4034502, nssv4034596, nssv4034546, nssv4034592, nssv4034580, nssv4034499, nssv4034594, nssv4034583, nssv4034564, nssv4034538, nssv4034569, nssv4034512, nssv4034576, nssv4034593, nssv4034521, nssv4034578, nssv4034496, nssv4034524, nssv4034533, nssv4034588, nssv4034555, nssv4034518, nssv4034504, nssv4034565, nssv4034531, nssv4034508, nssv4034511, nssv4034498, nssv4034536, nssv4034520, nssv4034505, nssv4034527

Samples

Known Genes

HLA-DRB1, HLA-DRB5, HLA-DRB6

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)

nsv1161372

Frequency

Sample Size	369
Observed Gain	0
Observed Loss	106
Observed Complex	0
Frequency	n/a