A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4033121



Internal ID19296984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:20425511..20440230hg38UCSC Ensembl
Outerchr5:20418416..20443449hg38UCSC Ensembl
Innerchr5:20425620..20440339hg19UCSC Ensembl
Outerchr5:20418525..20443558hg19UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg3825034
hg1925034
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161219
Supporting Variants
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)nssv4033121
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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