A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161294



Internal ID19302478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:120687722..120896472hg38UCSC Ensembl
Outerchr5:120674110..120902021hg38UCSC Ensembl
Innerchr5:120023417..120232167hg19UCSC Ensembl
Outerchr5:120009805..120237716hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38227912
hg19227912
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4033724
Samples
Known GenesPRR16
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)nsv1161294
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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