A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5706515



Internal ID21732836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:22895526..22895526hg38UCSC Ensembl
chr8:22753039..22753039hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17227679, nssv17184181
Samples
Known GenesPEBP4
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)nsv5706515
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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