A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4033612



Internal ID19297475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:113513070..113559977hg38UCSC Ensembl
Outerchr5:113509911..113567390hg38UCSC Ensembl
Innerchr5:112848767..112895674hg19UCSC Ensembl
Outerchr5:112845608..112903087hg19UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg3857480
hg1957480
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161279
Supporting Variants
Samples
Known GenesYTHDC2
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)nssv4033612
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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