A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5676547



Internal ID21702868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:161338643..161338643hg38UCSC Ensembl
chr2:162195154..162195154hg19UCSC Ensembl
Cytoband2q24.2
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 Variantsnssv17227992
Samples
Known GenesPSMD14
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)nsv5676547
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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