A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3555442



Internal ID22424285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:111746202..111746202hg38UCSC Ensembl
chr11:111616926..111616926hg19UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg381076
hg191076
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14441691
SamplesHG00733
Known GenesPPP2R1B
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3555442
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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