A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258178



Internal ID22330112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:57939394..57952959hg38UCSC Ensembl
Outerchr14:58406112..58419677hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg382919
hg192919
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3230734
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258178
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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