A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5684967



Internal ID21711288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241362748..241362748hg38UCSC Ensembl
chr2:242302163..242302163hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17228821, nssv17210309
Samples
Known GenesFARP2
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)nsv5684967
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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