A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5683528



Internal ID21709849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:122534583..122534583hg38UCSC Ensembl
chr3:122253430..122253430hg19UCSC Ensembl
Cytoband3q21.1
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 Variantsnssv17219192, nssv17211389
Samples
Known GenesPARP9
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5683528
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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