A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5713977



Internal ID21740298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:36402454..36402454hg38UCSC Ensembl
chr21:37774752..37774752hg19UCSC Ensembl
Cytoband21q22.12
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 Variantsnssv17204390
Samples
Known GenesCHAF1B
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)nsv5713977
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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