A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262759



Internal ID22324618
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3249545
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262759
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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