A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4037020



Internal ID19289119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:99137846..99437996hg38UCSC Ensembl
Outerchr8:99131829..99440950hg38UCSC Ensembl
Innerchr8:100150074..100450224hg19UCSC Ensembl
Outerchr8:100144057..100453178hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg38309122
hg19309122
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161782
Supporting Variants
Samples
Known GenesVPS13B
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)nssv4037020
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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