A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3238846



Internal ID22374267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:1059473..1102841hg38UCSC Ensembl
Outerchr11:1059473..1096749hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg384651
hg194651
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254250, nssv14254247, nssv14254246, nssv14254248, nssv14254249, nssv14254243
SamplesHG00512, NA19239, HG00731, HG00732, HG00513, HG00514
Known GenesMUC2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3238846
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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