A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599700



Internal ID16387109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:128837115..128962744hg38UCSC Ensembl
Innerchr5:128172808..128298437hg19UCSC Ensembl
Innerchr5:128200707..128326336hg18UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg38125630
hg19125630
hg18125630
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1032501
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599700
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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