A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3521583



Internal ID22390999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:95374841..95374841hg38UCSC Ensembl
chr9:98137123..98137123hg19UCSC Ensembl
Cytoband9q22.32
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14429484
SamplesHG00514
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)nsv3521583
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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