Variant Details

Variant: nsv1160181

Internal ID

18957771

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:16868660..16935752	hg38	UCSC Ensembl
Outer	chr1:16864367..16949746	hg38	UCSC Ensembl
Inner	chr1:17195155..17262247	hg19	UCSC Ensembl
Outer	chr1:17190862..17276241	hg19	UCSC Ensembl

Cytoband

1p36.13

Allele length

Assembly	Allele length
hg38	85380
hg19	85380

Variant Type

CNV duplication

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv4030059, nssv4029729, nssv4029826, nssv4029734, nssv4030081, nssv4026168, nssv4029730, nssv4029736, nssv4026057, nssv4029770, nssv4030092, nssv4029970, nssv4029748, nssv4029738, nssv4030014, nssv4029903, nssv4029859, nssv4029959, nssv4026013, nssv4029937, nssv4029735, nssv4029759, nssv4029948, nssv4030114, nssv4029881, nssv4026046, nssv4029926, nssv4026068, nssv4026079, nssv4029915, nssv4026102, nssv4026113, nssv4029848, nssv4030037, nssv4026002, nssv4029870, nssv4026035, nssv4026157, nssv4029815, nssv4025991, nssv4030003, nssv4026024, nssv4030070, nssv4026090, nssv4029804, nssv4029981, nssv4030026, nssv4029732, nssv4026146, nssv4030048, nssv4030103, nssv4026124, nssv4029728, nssv4029792, nssv4029992, nssv4026135, nssv4029707, nssv4029737, nssv4030125, nssv4029892, nssv4029731, nssv4029781, nssv4029718, nssv4029696, nssv4029837

Samples

Known Genes

CROCC

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)

nsv1160181

Frequency

Sample Size	369
Observed Gain	65
Observed Loss	0
Observed Complex	0
Frequency	n/a