A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5676621



Internal ID21702942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:45186586..45186586hg38UCSC Ensembl
chr5:45186688..45186688hg19UCSC Ensembl
Cytoband5p12
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 Variantsnssv17176120
Samples
Known Genes
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)nsv5676621
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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