A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5681579



Internal ID21707900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69015927..69015927hg38UCSC Ensembl
chr5:68311754..68311754hg19UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17210995
Samples
Known Genes
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)nsv5681579
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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