Variant Details

Variant: nsv1160389

Internal ID

19303785

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr16:32135565..32623443	hg38	UCSC Ensembl
Outer	chr16:32113010..32624204	hg38	UCSC Ensembl
Inner	chr16:32146886..32634764	hg19	UCSC Ensembl
Outer	chr16:32124331..32635525	hg19	UCSC Ensembl

Cytoband

16p11.2

Allele length

Assembly	Allele length
hg38	511195
hg19	511195

Variant Type

OTHER complex

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv4038757, nssv4038728, nssv4038768, nssv4038775, nssv4038727, nssv4038789, nssv4038730, nssv4038743, nssv4038756, nssv4038726, nssv4038731, nssv4038787, nssv4038762, nssv4038770, nssv4038777, nssv4038738, nssv4038739, nssv4038771, nssv4038781, nssv4038748, nssv4038769, nssv4038740, nssv4038753, nssv4038749, nssv4038723, nssv4038732, nssv4038784, nssv4038724, nssv4038788, nssv4038729, nssv4038735, nssv4038764, nssv4038778, nssv4038766, nssv4038760, nssv4038752, nssv4038765, nssv4038758, nssv4038783, nssv4038736, nssv4038754, nssv4038759, nssv4038737, nssv4038776, nssv4038780, nssv4038790, nssv4038751, nssv4038741, nssv4038750, nssv4038733, nssv4038725, nssv4038773, nssv4038744, nssv4038779, nssv4038746, nssv4038774, nssv4038742, nssv4038785, nssv4038772, nssv4038747, nssv4038734, nssv4038782, nssv4038761, nssv4038763, nssv4038767, nssv4038755, nssv4038786, nssv4038745

Samples

Known Genes

HERC2P4, LOC390705, TP53TG3D

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)

nsv1160389

Frequency

Sample Size	369
Observed Gain	2
Observed Loss	66
Observed Complex	0
Frequency	n/a