A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215365



Internal ID22361723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:68515904..68550001hg38UCSC Ensembl
Outerchr18:66183141..66217238hg19UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg3834098
hg1934098
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262859, nssv14262861, nssv14262862, nssv14262860, nssv14262858, nssv14262864, nssv14262863, nssv14262857
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215365
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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