A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161216



Internal ID19304224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:17490644..17510358hg38UCSC Ensembl
Outerchr5:17481490..17511650hg38UCSC Ensembl
Innerchr5:17490753..17510467hg19UCSC Ensembl
Outerchr5:17481599..17511759hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg3830161
hg1930161
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4033118
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)nsv1161216
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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