A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3561787



Internal ID22430555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:32026218..32026218hg38UCSC Ensembl
chr21:33398531..33398531hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14301846, nssv14301845, nssv14301844
SamplesHG00731, 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)nsv3561787
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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