A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5688680



Internal ID21715001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:20983161..20983161hg38UCSC Ensembl
chr6:20983392..20983392hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17178735, nssv17223992
Samples
Known GenesCDKAL1
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)nsv5688680
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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