A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv585271



Internal ID16025994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:2692609..2693630hg38UCSC Ensembl
Innerchr20:2673255..2674276hg19UCSC Ensembl
Innerchr20:2621255..2622276hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg381022
hg191022
hg181022
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7438n54
Supporting Variantsnssv937325, nssv937324, nssv937323, nssv937322
Samples
Known GenesEBF4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv585271
Frequency
Sample Size17421
Observed Gain1
Observed Loss3
Observed Complex0
Frequencyn/a


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