A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268716



Internal ID22273913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:29551566..29556202hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38724
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219163
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268716
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