A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3116612



Internal ID21299878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:59930542..59943422hg38UCSC Ensembl
Innerchr20:58505597..58518477hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3812881
hg1912881
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv693n145
Supporting Variantsnssv14099763
Samplessample81
Known GenesFAM217B, PPP1R3D, SYCP2
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3116612
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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