A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv585274



Internal ID16025997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:2692776..2693681hg38UCSC Ensembl
Innerchr20:2673422..2674327hg19UCSC Ensembl
Innerchr20:2621422..2622327hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38906
hg19906
hg18906
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7439n54
Supporting Variantsnssv937338, nssv937339
Samples
Known GenesEBF4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv585274
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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