A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3117475



Internal ID21300741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:7938458..7991997hg38UCSC Ensembl
Innerchr20:7919105..7972644hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg3853540
hg1953540
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14100806
Samplessample397
Known GenesHAO1, TMX4
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3117475
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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