A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246939



Internal ID22376569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:74165713..74206768hg38UCSC Ensembl
Outerchr18:71832948..71874003hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg383524
hg193524
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262965, nssv14262964, nssv14262963
SamplesHG00731, HG00732, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246939
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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