A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5712045



Internal ID21738366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:94984164..94984164hg38UCSC Ensembl
chr10:96743921..96743921hg19UCSC Ensembl
Cytoband10q23.33
Allele length
AssemblyAllele length
hg38126
hg19126
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17188885
Samples
Known GenesCYP2C9
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)nsv5712045
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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