A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597779



Internal ID16385188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32106978..32169441hg38UCSC Ensembl
Innerchr5:32107084..32169547hg19UCSC Ensembl
Innerchr5:32142841..32205304hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3862464
hg1962464
hg1862464
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9715n54
Supporting Variantsnssv1153336, nssv1028903, nssv1153335
SamplesHGDP00884, HGDP00351
Known GenesGOLPH3, PDZD2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597779
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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