A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5685340



Internal ID21711661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:9591248..9591248hg38UCSC Ensembl
chr5:9591360..9591360hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17212998, nssv17175924
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)nsv5685340
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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