A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3240925



Internal ID22374817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:1669129..1682977hg38UCSC Ensembl
Outerchr11:1690359..1704207hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg383284
hg193284
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1230n152
Supporting Variantsnssv14254265, nssv14254268, nssv14254267, nssv14254266
SamplesNA19238, HG00731, HG00732, HG00513
Known GenesMOB2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3240925
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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