A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259483



Internal ID22145235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:23165470..23326537hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3853546
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3240256
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259483
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