A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597775



Internal ID16038498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32106978..32156982hg38UCSC Ensembl
Innerchr5:32107084..32157088hg19UCSC Ensembl
Innerchr5:32142841..32192845hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3850005
hg1950005
hg1850005
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9714n54
Supporting Variantsnssv1028867
Samples
Known GenesGOLPH3, PDZD2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597775
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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