A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3563480



Internal ID22432216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:69611300..69611300hg38UCSC Ensembl
chr4:70477018..70477018hg19UCSC Ensembl
Cytoband4q13.2
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 Variantsnssv14313481, nssv14313482, nssv14313483
SamplesNA19238, HG00732, HG00733
Known GenesUGT2A1, UGT2A2
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)nsv3563480
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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