A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594747



Internal ID16035470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:85066879..85804349hg38UCSC Ensembl
Innerchr4:85988032..86725502hg19UCSC Ensembl
Innerchr4:86207056..86944526hg18UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg38737471
hg19737471
hg18737471
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152939
SamplesHGDP00950
Known GenesARHGAP24, MIR4451
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594747
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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