A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5092n152



Internal ID22820795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:239701979..239747646hg38UCSC Ensembl
chr2:240623673..240669340hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3845668
hg1945668
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3221805, nsv3222786
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv5092n152
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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