A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161796



Internal ID19303447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:116618444..116621022hg38UCSC Ensembl
Outerchr8:116612244..116623338hg38UCSC Ensembl
Innerchr8:117630683..117633261hg19UCSC Ensembl
Outerchr8:117624483..117635577hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3811095
hg1911095
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv268n111
Supporting Variantsnssv4037064, nssv4037065
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)nsv1161796
Frequency
Sample Size369
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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