A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218169



Internal ID22363601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:57278582..57289145hg38UCSC Ensembl
Outerchr18:54945813..54956376hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg3810564
hg1910564
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3873n152
Supporting Variantsnssv14262843, nssv14262840, nssv14262842, nssv14262841
SamplesNA19238, NA19239, HG00733, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218169
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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