A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17214559



Internal ID21662068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:34298480..34298480hg38UCSC Ensembl
chr6:34266257..34266257hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5693215
Supporting Variants
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)nssv17214559
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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