A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5707472



Internal ID21733793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:36881109..36881109hg38UCSC Ensembl
chr13:37455246..37455246hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17193470
Samples
Known GenesSMAD9
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)nsv5707472
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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