A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3559643



Internal ID22428443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:47360978..47360978hg38UCSC Ensembl
chr12:47754761..47754761hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38149
hg19149
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14364667
SamplesNA19238
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)nsv3559643
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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