A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218669



Internal ID22363942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:33328334..33388752hg38UCSC Ensembl
Outerchr18:30908298..30968716hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3860419
hg1960419
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261771
SamplesHG00732
Known GenesCCDC178
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218669
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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