A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4034087



Internal ID18951264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179624537..179683849hg38UCSC Ensembl
Outerchr5:179620185..179696634hg38UCSC Ensembl
Innerchr5:179051538..179110850hg19UCSC Ensembl
Outerchr5:179047186..179123635hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3876450
hg1976450
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161321
Supporting Variants
Samples
Known GenesC5orf60, CBY3, HNRNPH1
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)nssv4034087
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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