A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3521851



Internal ID22391267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:167922751..167922751hg38UCSC Ensembl
chr2:168779261..168779261hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38162
hg19162
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14394882
SamplesNA19240
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)nsv3521851
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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