A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254155



Internal ID22130968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:120866974..120880906hg38UCSC Ensembl
Outerchr11:120737683..120751615hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg381149
hg191149
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3248473
Supporting Variants
SamplesHG00513
Known GenesGRIK4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254155
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