A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5689650



Internal ID21715971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232938758..232938758hg38UCSC Ensembl
chr2:233803468..233803468hg19UCSC Ensembl
Cytoband2q37.1
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 Variantsnssv17226969
Samples
Known GenesNGEF
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)nsv5689650
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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