A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4037059



Internal ID19289158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:116612244..116618443hg38UCSC Ensembl
Outerchr8:116611073..116618919hg38UCSC Ensembl
Innerchr8:117624483..117630682hg19UCSC Ensembl
Outerchr8:117623312..117631158hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg387847
hg197847
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161794
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)nssv4037059
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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