A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5527n152



Internal ID22821230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:38912999..38928790hg38UCSC Ensembl
chr21:40284923..40300714hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg3815792
hg1915792
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3230907, nsv3249057
SamplesNA19238, HG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv5527n152
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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