A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17179283



Internal ID21626792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:146863779..146863779hg38UCSC Ensembl
chr5:146243342..146243342hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5687995
Supporting Variants
Samples
Known GenesPPP2R2B
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)nssv17179283
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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