A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161318



Internal ID18956035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179302587..179504309hg38UCSC Ensembl
Outerchr5:179293967..179509604hg38UCSC Ensembl
Innerchr5:178729588..178931310hg19UCSC Ensembl
Outerchr5:178720968..178936605hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38215638
hg19215638
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv213n111
Supporting Variantsnssv4034083, nssv4034084
Samples
Known GenesADAMTS2
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)nsv1161318
Frequency
Sample Size369
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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