A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv586566



Internal ID16027289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:63460989..63522433hg38UCSC Ensembl
Innerchr20:62092342..62153786hg19UCSC Ensembl
Innerchr20:61562786..61624230hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3861445
hg1961445
hg1861445
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7666n54
Supporting Variantsnssv943746
Samples
Known GenesEEF1A2, KCNQ2, PPDPF
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv586566
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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