A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5710132



Internal ID21736453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:70666960..70666960hg38UCSC Ensembl
chr9:73281876..73281876hg19UCSC Ensembl
Cytoband9q21.12
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 Variantsnssv17221594, nssv17187166
Samples
Known GenesTRPM3
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)nsv5710132
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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