A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3551282



Internal ID22420198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:111766406..111766406hg38UCSC Ensembl
chr11:111637130..111637130hg19UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14383791
SamplesNA19240
Known GenesPPP2R1B
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3551282
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer