A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5704566



Internal ID21730887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:122281762..122281762hg38UCSC Ensembl
chr8:123294001..123294001hg19UCSC Ensembl
Cytoband8q24.13
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 Variantsnssv17186199
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)nsv5704566
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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