A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597777



Internal ID16038500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32106978..32159411hg38UCSC Ensembl
Innerchr5:32107084..32159517hg19UCSC Ensembl
Innerchr5:32142841..32195274hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3852434
hg1952434
hg1852434
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9714n54
Supporting Variantsnssv1028874, nssv1028875
Samples
Known GenesGOLPH3, PDZD2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597777
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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