A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269169



Internal ID22146644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:17421395..17433039hg38UCSC Ensembl
Outerchr22:17900442..17912084hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg381055
hg191055
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3239236
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269169
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