A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5684242



Internal ID21710563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:28835640..28835640hg38UCSC Ensembl
chr2:29058506..29058506hg19UCSC Ensembl
Cytoband2p23.2
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 Variantsnssv17208046
Samples
Known GenesSPDYA
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)nsv5684242
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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