A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5695926



Internal ID21722247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:78410555..78410555hg38UCSC Ensembl
chr8:79322790..79322790hg19UCSC Ensembl
Cytoband8q21.12
Allele length
AssemblyAllele length
hg38252
hg19252
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17217506, nssv17184931
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)nsv5695926
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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