A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5681774



Internal ID21708095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1583910..1583910hg38UCSC Ensembl
chr5:1584025..1584025hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17210906, nssv17176801
Samples
Known GenesSDHAP3
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)nsv5681774
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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