A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3559566



Internal ID22428366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:65736013..65736013hg38UCSC Ensembl
chr11:65503484..65503484hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14360479, nssv14360478, nssv14360476, nssv14360477
SamplesNA19239, HG00731, HG00732, 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)nsv3559566
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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