A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262332



Internal ID22290899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:76238738..76251938hg38UCSC Ensembl
Outerchr18:73950693..73963893hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38768
hg19768
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3244821
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262332
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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