A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3522085



Internal ID22391504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:24612449..24612449hg38UCSC Ensembl
chr16:24623770..24623770hg19UCSC Ensembl
Cytoband16p12.1
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 Variantsnssv14382855
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)nsv3522085
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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