A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599714



Internal ID16387123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:132661768..132668839hg38UCSC Ensembl
Innerchr5:131997460..132004531hg19UCSC Ensembl
Innerchr5:132025359..132032430hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg387072
hg197072
hg187072
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1032514
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599714
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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