A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5080n152



Internal ID22820783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238765446..238789367hg38UCSC Ensembl
chr2:239674087..239698008hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3823922
hg1923922
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3216598, nsv3223579
SamplesHG00512, NA19238, NA19239, HG00731, NA19240, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv5080n152
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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