A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239518



Internal ID22374436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:123888696..123907526hg38UCSC Ensembl
Outerchr11:123759403..123778233hg19UCSC Ensembl
Cytoband11q24.1
Allele length
AssemblyAllele length
hg38660
hg19660
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255761
SamplesHG00513
Known GenesOR8D4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239518
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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