A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599620



Internal ID16387029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:121600538..121695435hg38UCSC Ensembl
Innerchr5:120936233..121031130hg19UCSC Ensembl
Innerchr5:120964132..121059029hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3894898
hg1994898
hg1894898
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10056n54
Supporting Variantsnssv1031996
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599620
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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