A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213359



Internal ID22360330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:57276751..57287050hg38UCSC Ensembl
Outerchr18:54943982..54954281hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg3810300
hg1910300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3873n152
Supporting Variantsnssv14262088, nssv14262086, nssv14262085, nssv14262087, nssv14262083, nssv14262089, nssv14262084
SamplesHG00512, NA19239, HG00731, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213359
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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