A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5053n152



Internal ID22820756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:234609691..234653355hg38UCSC Ensembl
chr2:235518335..235561999hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3843665
hg1943665
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3225733, nsv3211977
SamplesHG00732, NA19240, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv5053n152
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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