A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599562



Internal ID16386971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:118786809..118894945hg38UCSC Ensembl
Innerchr5:118122504..118230640hg19UCSC Ensembl
Innerchr5:118150403..118258539hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38108137
hg19108137
hg18108137
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1040898
Samples
Known GenesDTWD2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599562
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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