A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239341



Internal ID22374391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:45078011..45102646hg38UCSC Ensembl
Outerchr11:45099562..45124197hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38766
hg19766
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254959, nssv14254960
SamplesHG00731, HG00732
Known GenesPRDM11
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239341
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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