A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262084



Internal ID22133762
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213359
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262084
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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