A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218961



Internal ID22364133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:69055866..69092549hg38UCSC Ensembl
Outerchr18:66723103..66759786hg19UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg3836684
hg1936684
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262866, nssv14262865
SamplesNA19238, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218961
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer