A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5608n152



Internal ID22821311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46031810..46064694hg38UCSC Ensembl
chr21:47451724..47484608hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3832885
hg1932885
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3243379, nsv3243245
SamplesHG00732, NA19240, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv5608n152
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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