A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594478



Internal ID16035201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:65687707..65763257hg38UCSC Ensembl
Innerchr4:66553425..66628975hg19UCSC Ensembl
Innerchr4:66236020..66311570hg18UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg3875551
hg1975551
hg1875551
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1001743
Samples
Known GenesLOC100144602
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594478
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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