A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5690833



Internal ID21717154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172160945..172160945hg38UCSC Ensembl
chr5:171587949..171587949hg19UCSC Ensembl
Cytoband5q35.1
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 Variantsnssv17177681
Samples
Known GenesSTK10
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)nsv5690833
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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