A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv585273



Internal ID16025996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:2692609..2694089hg38UCSC Ensembl
Innerchr20:2673255..2674735hg19UCSC Ensembl
Innerchr20:2621255..2622735hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg381481
hg191481
hg181481
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7440n54
Supporting Variantsnssv937336, nssv937335, nssv937337
Samples
Known GenesEBF4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv585273
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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