A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5593n152



Internal ID22821296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45499031..45560791hg38UCSC Ensembl
chr21:46918945..46980705hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3861761
hg1961761
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3243709, nsv3243811
SamplesNA19238, NA19239, NA19240, HG00513
Known GenesCOL18A1, SLC19A1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv5593n152
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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