A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5676236



Internal ID21702557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:233010759..233010759hg38UCSC Ensembl
chr1:233146505..233146505hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38258
hg19258
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17192767, nssv17207022
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)nsv5676236
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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