A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160928



Internal ID18957234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:37743486..37903926hg38UCSC Ensembl
Outerchr3:37742341..37907632hg38UCSC Ensembl
Innerchr3:37784977..37945417hg19UCSC Ensembl
Outerchr3:37783832..37949123hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg38165292
hg19165292
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4027659
Samples
Known GenesCTDSPL, ITGA9
MethodSNP array
Analysis1) 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.
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceLou_et_al_2015
Pubmed ID26073780
Accession Number(s)nsv1160928
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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