A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5680233



Internal ID21706554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:87686677..87686677hg38UCSC Ensembl
chr4:88607829..88607829hg19UCSC Ensembl
Cytoband4q22.1
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 Variantsnssv17174423
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)nsv5680233
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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