A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17207025



Internal ID21654534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:233173659..233173659hg38UCSC Ensembl
chr1:233309405..233309405hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38262
hg19262
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5679238
Supporting Variants
Samples
Known GenesPCNXL2
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)nssv17207025
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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