A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv674221



Internal ID15064187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:146786815..147433084hg38UCSC Ensembl
Innerchr5:146166378..146812647hg19UCSC Ensembl
Innerchr5:146146571..146792840hg18UCSC Ensembl
Innerchr5:146146571..146792840hg17UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38646270
hg19646270
hg18646270
hg17646270
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519847
Supporting Variants
Samples
Known GenesDPYSL3, PPP2R2B, PPP2R2B-IT1, STK32A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv674221
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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