A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5690210



Internal ID21716531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:126617849..126617849hg38UCSC Ensembl
chr3:126336692..126336692hg19UCSC Ensembl
Cytoband3q21.3
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 Variantsnssv17221207
Samples
Known GenesTXNRD3
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)nsv5690210
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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