A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3560478



Internal ID22429275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:89769685..89769685hg38UCSC Ensembl
chr15:90312916..90312916hg19UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14378460, nssv14377495, nssv14381080, nssv14385375, nssv14372960, nssv14386064
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733
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)nsv3560478
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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