A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5675100



Internal ID21701421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1815769..1815769hg38UCSC Ensembl
chr5:1815883..1815883hg19UCSC Ensembl
Cytoband5p15.33
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 Variantsnssv17176805, nssv17210909
Samples
Known GenesNDUFS6
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)nsv5675100
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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