A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161198



Internal ID19303564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:659295..809691hg38UCSC Ensembl
Outerchr5:654181..817735hg38UCSC Ensembl
Innerchr5:659410..809806hg19UCSC Ensembl
Outerchr5:654296..817850hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38163555
hg19163555
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4033054
Samples
Known GenesTPPP, ZDHHC11
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)nsv1161198
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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