A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213981



Internal ID22360762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:62573751..62586932hg38UCSC Ensembl
Outerchr18:60240984..60254165hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg3813182
hg1913182
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262849, nssv14262847, nssv14262848, nssv14262844, nssv14262846, nssv14262845, nssv14262850
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00513, HG00514
Known GenesZCCHC2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213981
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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