A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5704005



Internal ID21730326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:3545772..3545772hg38UCSC Ensembl
chr12:3654938..3654938hg19UCSC Ensembl
Cytoband12p13.32
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 Variantsnssv17190781
Samples
Known GenesPRMT8
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)nsv5704005
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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