A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14383791



Internal ID22322249
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 StatusS
Merged Variantsnsv3551282
Supporting Variants
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)nssv14383791
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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