A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5385n152



Internal ID22821088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:63666510..63697457hg38UCSC Ensembl
chr20:62297863..62328810hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3830948
hg1930948
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3232241, nsv3247645
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesRTEL1, RTEL1-TNFRSF6B, TNFRSF6B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv5385n152
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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