A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257814



Internal ID22259673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:80478329..80497771hg38UCSC Ensembl
Outerchr14:80944672..80964114hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg381923
hg191923
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3250310
Supporting Variants
SamplesNA19238
Known GenesCEP128
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257814
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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