A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259032



Internal ID22145168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:104211914..104304131hg38UCSC Ensembl
Outerchr14:104678251..104770468hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg386287
hg196287
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3248221
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259032
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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