A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5693215



Internal ID21719536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:34298480..34298480hg38UCSC Ensembl
chr6:34266257..34266257hg19UCSC Ensembl
Cytoband6p21.31
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 Variantsnssv17178782, nssv17214559
Samples
Known GenesNUDT3, RPS10-NUDT3
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)nsv5693215
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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