A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv693n145



Internal ID22813709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:59930542..59943422hg38UCSC Ensembl
chr20:58505597..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 Variants
Supporting Variantsnsv3115511, nsv3116612, nsv3113910, nsv3112918
Samplessample81, sample300, sample397, sample296
Known GenesFAM217B, PPP1R3D, SYCP2
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)dgv693n145
Frequency
Sample Size467
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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