A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5706175



Internal ID21732496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:115095555..115095555hg38UCSC Ensembl
chr9:117857834..117857834hg19UCSC Ensembl
Cytoband9q33.1
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 Variantsnssv17225077
Samples
Known GenesTNC
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)nsv5706175
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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