A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3519867



Internal ID22389274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:22091026..22091026hg38UCSC Ensembl
chr18:19670987..19670987hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14392965, nssv14419171
SamplesNA19240, 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)nsv3519867
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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