A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258171



Internal ID22256031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:53334820..53366035hg38UCSC Ensembl
Outerchr14:53801538..53832753hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38921
hg19921
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3241562
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258171
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer