A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5682318



Internal ID21708639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:24467776..24467776hg38UCSC Ensembl
chr6:24468004..24468004hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17179480, nssv17232872
Samples
Known GenesGPLD1
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)nsv5682318
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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