A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275928



Internal ID22198549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:17796483..17815331hg38UCSC Ensembl
Outerchr5:17796592..17815440hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg38674
hg19674
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221299
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275928
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