A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236467



Internal ID22363311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:45101337..45102646hg38UCSC Ensembl
Outerchr11:45122888..45124197hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38537
hg19537
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254042, nssv14254693, nssv14254041
SamplesHG00512, NA19239, HG00513
Known GenesPRDM11
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236467
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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