A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14348076



Internal ID22279133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:86611751..86611751hg38UCSC Ensembl
chr9:89226666..89226666hg19UCSC Ensembl
Cytoband9q21.33
Allele length
AssemblyAllele length
hg38246
hg19246
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3565394
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14348076
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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