A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5688497



Internal ID21714818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:229311551..229311551hg38UCSC Ensembl
chr2:230176267..230176267hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38272
hg19272
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17226256
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)nsv5688497
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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