A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267080



Internal ID22326152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:39973292..39989636hg38UCSC Ensembl
Outerchr21:41345219..41361563hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg382115
hg192115
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3234188
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267080
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