A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5691718



Internal ID21718039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:51400121..51400121hg38UCSC Ensembl
chr5:50695955..50695955hg19UCSC Ensembl
Cytoband5q11.1
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 Variantsnssv17176166, nssv17212928
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)nsv5691718
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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