A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3565492



Internal ID22434211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:81543835..81543835hg38UCSC Ensembl
chr8:82456070..82456070hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14341176, nssv14341177
SamplesNA19238, NA19240
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)nsv3565492
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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