A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5681918



Internal ID21708239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:98452198..98452198hg38UCSC Ensembl
chr7:98081510..98081510hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17183033, nssv17224918
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)nsv5681918
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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