A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3521187



Internal ID22390600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:33132512..33132512hg38UCSC Ensembl
chr22:33528498..33528498hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14396167, nssv14451246, nssv14422794
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)nsv3521187
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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