A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17217648



Internal ID21665157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111696736..111696736hg38UCSC Ensembl
chr12:112134540..112134540hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5708973
Supporting Variants
Samples
Known GenesACAD10
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)nssv17217648
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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