A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590952



Internal ID16378361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:89444017..89678048hg38UCSC Ensembl
Innerchr3:89493167..89727198hg19UCSC Ensembl
Innerchr3:89575857..89809888hg18UCSC Ensembl
Cytoband3p11.1
Allele length
AssemblyAllele length
hg38234032
hg19234032
hg18234032
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv967692
Samples
Known GenesEPHA3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590952
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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