A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3247774



Internal ID22376796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:29456036..29474608hg38UCSC Ensembl
Outerchr11:29477583..29496155hg19UCSC Ensembl
Cytoband11p14.1
Allele length
AssemblyAllele length
hg383131
hg193131
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254029
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3247774
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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