Variant Details

Variant: nsv1160579

Internal ID

18957058

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr19:8285313..8300183	hg38	UCSC Ensembl
Outer	chr19:8270055..8313986	hg38	UCSC Ensembl
Inner	chr19:8350197..8365067	hg19	UCSC Ensembl
Outer	chr19:8334939..8378870	hg19	UCSC Ensembl

Cytoband

19p13.2

Allele length

Assembly	Allele length
hg38	43932
hg19	43932

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv4039589, nssv4039638, nssv4039668, nssv4039622, nssv4039639, nssv4039681, nssv4039602, nssv4039621, nssv4039666, nssv4039599, nssv4039603, nssv4039600, nssv4039674, nssv4039689, nssv4039637, nssv4039652, nssv4039684, nssv4039663, nssv4039628, nssv4039625, nssv4039677, nssv4039682, nssv4039641, nssv4039642, nssv4039609, nssv4039676, nssv4039635, nssv4039597, nssv4039595, nssv4039592, nssv4039636, nssv4039630, nssv4039615, nssv4039675, nssv4039631, nssv4039624, nssv4039620, nssv4039680, nssv4039690, nssv4039627, nssv4039656, nssv4039588, nssv4039644, nssv4039614, nssv4039654, nssv4039649, nssv4039659, nssv4039587, nssv4039653, nssv4039661, nssv4039657, nssv4039608, nssv4039645, nssv4039606, nssv4039671, nssv4039610, nssv4039678, nssv4039651, nssv4039648, nssv4039679, nssv4039626, nssv4039667, nssv4039687, nssv4039665, nssv4039598, nssv4039660, nssv4039593, nssv4039633, nssv4039612, nssv4039619, nssv4039669, nssv4039640, nssv4039686, nssv4039629, nssv4039670, nssv4039594, nssv4039590, nssv4039685, nssv4039611, nssv4039658, nssv4039646, nssv4039613, nssv4039601, nssv4039617, nssv4039616, nssv4039605, nssv4039683, nssv4039632, nssv4039623, nssv4039604, nssv4039688, nssv4039618, nssv4039607, nssv4039634, nssv4039662, nssv4039673, nssv4039596, nssv4039650, nssv4039664, nssv4039591, nssv4039647, nssv4039672, nssv4039643, nssv4039655

Samples

Known Genes

CD320, NDUFA7

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)

nsv1160579

Frequency

Sample Size	369
Observed Gain	0
Observed Loss	104
Observed Complex	0
Frequency	n/a