A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3366n152



Internal ID22819069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:90108604..90125387hg38UCSC Ensembl
chr16:90175012..90191795hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg3816784
hg1916784
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3248159, nsv3247987
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)dgv3366n152
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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