A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253696



Internal ID22300387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:42672868..42726862hg38UCSC Ensembl
Outerchr11:42694418..42748412hg19UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg381353
hg191353
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3232044
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253696
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