A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594656



Internal ID16382065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:72398651..72743309hg38UCSC Ensembl
Innerchr4:73264368..73609026hg19UCSC Ensembl
Innerchr4:73483232..73827890hg18UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38344659
hg19344659
hg18344659
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1002294
Samples
Known GenesADAMTS3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594656
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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