A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217678



Internal ID22363256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:50291640..50306163hg38UCSC Ensembl
Outerchr18:47818010..47832533hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3814524
hg1914524
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262829, nssv14262828
SamplesNA19238, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217678
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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