A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5695399



Internal ID21721720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:89790050..89790050hg38UCSC Ensembl
chr8:90802278..90802278hg19UCSC Ensembl
Cytoband8q21.3
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 Variantsnssv17217993, nssv17185412
Samples
Known GenesRIPK2
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)nsv5695399
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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