A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213040



Internal ID22360112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:41281978..41302265hg38UCSC Ensembl
Outerchr18:38861942..38882229hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3820288
hg1920288
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262819, nssv14262821, nssv14262815, nssv14262816, nssv14262818, nssv14262820, nssv14262823, nssv14262822, nssv14262817
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)nsv3213040
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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