A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv586565



Internal ID16027288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:63392922..63409602hg38UCSC Ensembl
Innerchr20:62024275..62040955hg19UCSC Ensembl
Innerchr20:61494719..61511399hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3816681
hg1916681
hg1816681
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv943745
Samples
Known GenesKCNQ2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv586565
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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