A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262758



Internal ID22281512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:43729033..43741177hg38UCSC Ensembl
Outerchr18:41308998..41321142hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg385338
hg195338
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3249545
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262758
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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