A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3559563



Internal ID22428363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:61472839..61472839hg38UCSC Ensembl
chr11:61240311..61240311hg19UCSC Ensembl
Cytoband11q12.2
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 Variantsnssv14359705, nssv14359706
SamplesHG00731, HG00732
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)nsv3559563
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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