A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262091



Internal ID22308682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:61998059..62014564hg38UCSC Ensembl
Outerchr18:59665292..59681797hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg3816506
hg1916506
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225875
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262091
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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