A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3113031



Internal ID21296297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:59937273..59942258hg38UCSC Ensembl
Innerchr20:58512328..58517313hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg384986
hg194986
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14099987
Samplessample250
Known GenesFAM217B, PPP1R3D
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3113031
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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