A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593469



Internal ID16034192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:3765829..3767734hg38UCSC Ensembl
Innerchr4:3767556..3769461hg19UCSC Ensembl
Innerchr4:3737354..3739259hg18UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg381906
hg191906
hg181906
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv989298
Samples
Known GenesADRA2C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593469
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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