A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214861



Internal ID22361381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:49439028..49447493hg38UCSC Ensembl
Outerchr18:46965398..46973863hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg388466
hg198466
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261728
SamplesHG00513
Known GenesDYM
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214861
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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