A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5701052



Internal ID21727373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:58253380..58253380hg38UCSC Ensembl
chr8:59165939..59165939hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38271
hg19271
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17225330, nssv17183559
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)nsv5701052
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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