A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv691n145



Internal ID22813707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:55470841..55473950hg38UCSC Ensembl
chr20:54087379..54090488hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg383110
hg193110
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3114044, nsv3112863
Samplessample375, sample286
Known Genes
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)dgv691n145
Frequency
Sample Size467
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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