A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214697



Internal ID22361273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:54386567..54443192hg38UCSC Ensembl
Outerchr18:51912937..51969562hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg3856626
hg1956626
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262835, nssv14262838, nssv14262836, nssv14262839, nssv14262837, nssv14262831, nssv14262832, nssv14262834, nssv14262833
SamplesHG00512, NA19238, 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)nsv3214697
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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