A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3520922



Internal ID22390334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:42818816..42818816hg38UCSC Ensembl
chr22:43214822..43214822hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14450957, nssv14395799
SamplesNA19240, HG00733
Known GenesARFGAP3
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)nsv3520922
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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