A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv220n111



Internal ID20163949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:29869747..29950659hg38UCSC Ensembl
chr6:29837524..29918436hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3880913
hg1980913
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1161355, nsv1161356, nsv1161357
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)dgv220n111
Frequency
Sample Size369
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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