A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4032283



Internal ID19296146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:46440404..46500076hg38UCSC Ensembl
Outerchr15:46437877..46502239hg38UCSC Ensembl
Innerchr15:46732602..46792274hg19UCSC Ensembl
Outerchr15:46730075..46794437hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg3864363
hg1964363
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160295
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)nssv4032283
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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