A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3237290



Internal ID22373840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:121972928..122025218hg38UCSC Ensembl
Outerchr11:121843636..121895926hg19UCSC Ensembl
Cytoband11q24.1
Allele length
AssemblyAllele length
hg381289
hg191289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1603n152
Supporting Variantsnssv14254178, nssv14254179, nssv14254180
SamplesNA19238, NA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3237290
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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