A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161355



Internal ID18956311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29873174..29940692hg38UCSC Ensembl
Outerchr6:29869747..29946443hg38UCSC Ensembl
Innerchr6:29840951..29908469hg19UCSC Ensembl
Outerchr6:29837524..29914220hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3876697
hg1976697
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv220n111
Supporting Variantsnssv4034378, nssv4034375, nssv4034376, nssv4034377
Samples
Known GenesHCG4B, HLA-A, HLA-H
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)nsv1161355
Frequency
Sample Size369
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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