A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3247977



Internal ID22376845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:112204646..112217803hg38UCSC Ensembl
Outerchr11:112075369..112088526hg19UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg381220
hg191220
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254867
SamplesNA19238
Known GenesBCO2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3247977
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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