A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5691745



Internal ID21718066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:161883154..161883154hg38UCSC Ensembl
chr2:162739664..162739664hg19UCSC Ensembl
Cytoband2q24.2
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 Variantsnssv17214652, nssv17209342
Samples
Known GenesSLC4A10
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)nsv5691745
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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