A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5680051



Internal ID21706372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:91378143..91378143hg38UCSC Ensembl
chr5:90673960..90673960hg19UCSC Ensembl
Cytoband5q14.3
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 Variantsnssv17176310
Samples
Known GenesARRDC3
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)nsv5680051
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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