A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3522722



Internal ID22392145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55569962..55569962hg38UCSC Ensembl
chr5:54865790..54865790hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14458112, nssv14425676, nssv14399790
SamplesNA19240, HG00733, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluY mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3522722
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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