A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594742



Internal ID16382151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:82028527..82146518hg38UCSC Ensembl
Innerchr4:82949680..83067671hg19UCSC Ensembl
Innerchr4:83168704..83286695hg18UCSC Ensembl
Cytoband4q21.22
Allele length
AssemblyAllele length
hg38117992
hg19117992
hg18117992
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152938
Samples1780862563_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594742
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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