A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17232051



Internal ID21679560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:146767213..146767213hg38UCSC Ensembl
chr5:146146776..146146776hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5679211
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)nssv17232051
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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