A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5707433



Internal ID21733754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:26267381..26267381hg38UCSC Ensembl
chr8:26124897..26124897hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17184282, nssv17223632
Samples
Known Genes
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)nsv5707433
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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