A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4034500



Internal ID19298363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32463775..32605994hg38UCSC Ensembl
Outerchr6:32463515..32606237hg38UCSC Ensembl
Innerchr6:32431552..32573771hg19UCSC Ensembl
Outerchr6:32431292..32574014hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38142723
hg19142723
Variant TypeCNV deletion
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161372
Supporting Variants
Samples
Known GenesHLA-DRB1, HLA-DRB5, HLA-DRB6
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)nssv4034500
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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