A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3524223



Internal ID22393653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:119253539..119253539hg38UCSC Ensembl
chr11:119124249..119124249hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38266
hg19266
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14384983, nssv14416003, nssv14443432
SamplesNA19240, HG00733, HG00514
Known GenesCBL
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a Alu.Mosaic mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3524223
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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