A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv586076



Internal ID16026799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:44706933..44779789hg38UCSC Ensembl
Innerchr20:43335574..43408430hg19UCSC Ensembl
Innerchr20:42768988..42841844hg18UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3872857
hg1972857
hg1872857
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150947
SamplesNINDS_91
Known GenesKCNK15, RIMS4, WISP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv586076
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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