A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275233



Internal ID22125189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:115387657..115480414hg38UCSC Ensembl
Outerchr5:114723354..114816111hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg38855
hg19855
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224421
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275233
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