A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3682n152



Internal ID22819385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80740373..80753093hg38UCSC Ensembl
chr17:78714173..78726893hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3812721
hg1912721
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3236251, nsv3233206
SamplesHG00512, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesRPTOR
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv3682n152
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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