A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3247579



Internal ID22376757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:63415009..63506568hg38UCSC Ensembl
Outerchr11:63182481..63274040hg19UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg3816135
hg1916135
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254503, nssv14254502, nssv14254500, nssv14254501
SamplesNA19238, NA19239, HG00733, HG00513
Known GenesHRASLS5, LGALS12, MIR3680-1, MIR3680-2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3247579
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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