A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3524667



Internal ID22394102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:98571596..98571596hg38UCSC Ensembl
chr3:98290440..98290440hg19UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg38197
hg19197
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14396605
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)nsv3524667
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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