A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3562730



Internal ID22431476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:122726900..122726900hg38UCSC Ensembl
chr3:122445747..122445747hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14309358, nssv14309357, nssv14309355, nssv14309356
SamplesHG00512, NA19238, HG00513, HG00514
Known GenesPARP14
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)nsv3562730
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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