A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593453



Internal ID16380862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:3418113..3426245hg38UCSC Ensembl
Innerchr4:3419840..3427972hg19UCSC Ensembl
Innerchr4:3389638..3397770hg18UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg388133
hg198133
hg188133
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv989235
Samples
Known GenesRGS12
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593453
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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