A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254904



Internal ID22187891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:118798162..118817537hg38UCSC Ensembl
Outerchr11:118668871..118688246hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg381135
hg191135
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3248686
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254904
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