A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv585269



Internal ID16025992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:2692558..2693681hg38UCSC Ensembl
Innerchr20:2673204..2674327hg19UCSC Ensembl
Innerchr20:2621204..2622327hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg381124
hg191124
hg181124
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7438n54
Supporting Variantsnssv937310, nssv937312, nssv937318, nssv937317, nssv937311, nssv937315, nssv937316, nssv937313, nssv937314
Samples
Known GenesEBF4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv585269
Frequency
Sample Size17421
Observed Gain8
Observed Loss1
Observed Complex0
Frequencyn/a


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