A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5712424



Internal ID21738745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:45894850..45894850hg38UCSC Ensembl
chr12:46288633..46288633hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38229
hg19229
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17192480, nssv17230301
Samples
Known GenesARID2
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)nsv5712424
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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