A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4033066



Internal ID19296929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:2471792..2493327hg38UCSC Ensembl
Outerchr5:2469571..2494159hg38UCSC Ensembl
Innerchr5:2471906..2493441hg19UCSC Ensembl
Outerchr5:2469685..2494273hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3824589
hg1924589
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161208
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)nssv4033066
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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