A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5687569



Internal ID21713890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:71223058..71223058hg38UCSC Ensembl
chr2:71450188..71450188hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38271
hg19271
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17204693
Samples
Known GenesPAIP2B
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)nsv5687569
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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