A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3562132



Internal ID22430892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:34034623..34034623hg38UCSC Ensembl
chr22:34430612..34430612hg19UCSC Ensembl
Cytoband22q12.3
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 Variantsnssv14305558, nssv14305557, nssv14305553, nssv14305552, nssv14305551, nssv14305555, nssv14305556, nssv14305554
SamplesHG00512, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
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)nsv3562132
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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