A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5000n152



Internal ID22820703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:220632675..220652851hg38UCSC Ensembl
chr2:221497396..221517571hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3820177
hg1920176
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3213237, nsv3212131
SamplesNA19238, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv5000n152
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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