A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258398



Internal ID22221647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:65131079..65153165hg38UCSC Ensembl
Outerchr14:65597797..65619883hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg3822087
hg1922087
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228506
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258398
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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