A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261885



Internal ID22202204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:36462144..36475468hg38UCSC Ensembl
Outerchr18:34042107..34055431hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg381590
hg191590
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3242614
Supporting Variants
SamplesHG00732
Known GenesFHOD3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261885
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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