A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590636



Internal ID16378045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:73457634..73773560hg38UCSC Ensembl
Innerchr3:73506785..73822711hg19UCSC Ensembl
Innerchr3:73589475..73905401hg18UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg38315927
hg19315927
hg18315927
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv965594
Samples
Known GenesPDZRN3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590636
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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