A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210642



Internal ID22358475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:78829993..78847503hg38UCSC Ensembl
Outerchr18:76589993..76607503hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3817511
hg1917511
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3976n152
Supporting Variantsnssv14261749, nssv14261748
SamplesHG00733, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210642
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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