A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5689693



Internal ID21716014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179748412..179748412hg38UCSC Ensembl
chr5:179175413..179175413hg19UCSC Ensembl
Cytoband5q35.3
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 Variantsnssv17177189, nssv17215598
Samples
Known GenesMAML1
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)nsv5689693
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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