A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597780



Internal ID16038503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32106978..32193558hg38UCSC Ensembl
Innerchr5:32107084..32193664hg19UCSC Ensembl
Innerchr5:32142841..32229421hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3886581
hg1986581
hg1886581
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1028904
Samples
Known GenesGOLPH3, PDZD2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597780
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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