A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3523474



Internal ID22392902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:22625879..22625879hg38UCSC Ensembl
chr8:22483392..22483392hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38333
hg19333
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14458150
SamplesHG00733
Known GenesBIN3
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)nsv3523474
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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