A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160214



Internal ID19304020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19947475..20422239hg38UCSC Ensembl
Outerchr15:19938398..20441322hg38UCSC Ensembl
Innerchr15:20152728..20627492hg19UCSC Ensembl
Outerchr15:20143651..20646575hg19UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38502925
hg19502925
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv94n111
Supporting Variantsnssv4031897
Samples
Known GenesCHEK2P2, HERC2P3
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)nsv1160214
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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