A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4037010



Internal ID19289109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:75963215..76025719hg38UCSC Ensembl
Outerchr8:75960449..76026707hg38UCSC Ensembl
Innerchr8:76875450..76937954hg19UCSC Ensembl
Outerchr8:76872684..76938942hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg3866259
hg1966259
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161772
Supporting Variants
Samples
Known Genes
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)nssv4037010
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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