A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258155



Internal ID22201024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:50071343..50075168hg38UCSC Ensembl
Outerchr14:50538061..50541886hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg381053
hg191053
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3244385
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258155
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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