A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255384



Internal ID22200126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:73100606..73191709hg38UCSC Ensembl
Outerchr12:73494386..73585489hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg38648
hg19648
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3242797
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255384
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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