A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv585391



Internal ID16372800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:8116305..8595024hg38UCSC Ensembl
Innerchr20:8096952..8575671hg19UCSC Ensembl
Innerchr20:8044952..8523671hg18UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38478720
hg19478720
hg18478720
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7457n54
Supporting Variantsnssv937921
Samples
Known GenesPLCB1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv585391
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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