A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3232486



Internal ID22372514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:126063294..126069926hg38UCSC Ensembl
Outerchr11:125933189..125939821hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38841
hg19841
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254532, nssv14254533
SamplesNA19238, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3232486
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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