A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590369



Internal ID16031092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:58283985..58331965hg38UCSC Ensembl
Innerchr3:58269712..58317692hg19UCSC Ensembl
Innerchr3:58244752..58292732hg18UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg3847981
hg1947981
hg1847981
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv963368
Samples
Known GenesABHD6, RPP14
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590369
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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