A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv299n152



Internal ID22816002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:82238924..82290543hg38UCSC Ensembl
chr1:82704608..82756226hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3851620
hg1951619
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3222017, nsv3213704
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv299n152
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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