A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254966



Internal ID22190859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:83937287..83970334hg38UCSC Ensembl
Outerchr11:83648330..83681377hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg385775
hg195775
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3243120
Supporting Variants
SamplesHG00731
Known GenesDLG2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254966
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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