A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4040489



Internal ID18952625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43550456..43552931hg38UCSC Ensembl
Outerchr21:43548172..43553786hg38UCSC Ensembl
Innerchr21:44970337..44972812hg19UCSC Ensembl
Outerchr21:44968053..44973667hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg385615
hg195615
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160718
Supporting Variants
Samples
Known GenesHSF2BP
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)nssv4040489
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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