A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254875



Internal ID22220455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:114803811..114849205hg38UCSC Ensembl
Outerchr11:114674533..114719927hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg381757
hg191757
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3237465
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254875
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