A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594481



Internal ID16381890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:65718188..65763257hg38UCSC Ensembl
Innerchr4:66583906..66628975hg19UCSC Ensembl
Innerchr4:66266501..66311570hg18UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg3845070
hg1945070
hg1845070
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9098n54
Supporting Variantsnssv1001747, nssv1001746
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594481
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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