A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598963



Internal ID16039686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:96749072..97027703hg38UCSC Ensembl
Innerchr5:96084776..96363407hg19UCSC Ensembl
Innerchr5:96110532..96389163hg18UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38278632
hg19278632
hg18278632
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1038112
Samples
Known GenesCAST, ERAP1, ERAP2, LNPEP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598963
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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