A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4032392



Internal ID19296255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:80230629..80234268hg38UCSC Ensembl
Outerchr15:80227841..80238172hg38UCSC Ensembl
Innerchr15:80522971..80526610hg19UCSC Ensembl
Outerchr15:80520183..80530514hg19UCSC Ensembl
Cytoband15q25.1
Allele length
AssemblyAllele length
hg3810332
hg1910332
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160312
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)nssv4032392
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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