A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4032316



Internal ID18949493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:76367537..76541497hg38UCSC Ensembl
Outerchr15:76358361..76545880hg38UCSC Ensembl
Innerchr15:76659878..76833838hg19UCSC Ensembl
Outerchr15:76650702..76838221hg19UCSC Ensembl
Cytoband15q24.3
Allele length
AssemblyAllele length
hg38187520
hg19187520
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160305
Supporting Variants
Samples
Known GenesSCAPER
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)nssv4032316
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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