Variant Details

Variant: nsv1159880

Internal ID

18956096

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr11:55606556..55685533	hg38	UCSC Ensembl
Outer	chr11:55595864..55686100	hg38	UCSC Ensembl
Inner	chr11:55374032..55453009	hg19	UCSC Ensembl
Outer	chr11:55363340..55453576	hg19	UCSC Ensembl

Cytoband

11q11

Allele length

Assembly	Allele length
hg38	90237
hg19	90237

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

dgv48n111

Supporting Variants

nssv4030697, nssv4030729, nssv4030731, nssv4030711, nssv4030704, nssv4030734, nssv4030723, nssv4030739, nssv4030702, nssv4030714, nssv4030726, nssv4030706, nssv4030747, nssv4030721, nssv4030733, nssv4030691, nssv4030737, nssv4030742, nssv4030695, nssv4030728, nssv4030703, nssv4030730, nssv4030722, nssv4030710, nssv4030719, nssv4030732, nssv4030708, nssv4030709, nssv4030699, nssv4030690, nssv4030715, nssv4030720, nssv4030696, nssv4030698, nssv4030736, nssv4030717, nssv4030716, nssv4030705, nssv4030745, nssv4030692, nssv4030694, nssv4030738, nssv4030746, nssv4030740, nssv4030748, nssv4030743, nssv4030749, nssv4030701, nssv4030718, nssv4030744, nssv4030712, nssv4030693, nssv4030741, nssv4030725, nssv4030700, nssv4030713, nssv4030727, nssv4030735, nssv4030724, nssv4030707

Samples

Known Genes

OR4C11, OR4C6, OR4P4, OR4S2

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)

nsv1159880

Frequency

Sample Size	369
Observed Gain	0
Observed Loss	60
Observed Complex	0
Frequency	n/a