A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262346



Internal ID22270560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:79003538..79048257hg38UCSC Ensembl
Outerchr18:76763538..76808257hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38242
hg19242
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3242703
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262346
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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