A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5402241



Internal ID181612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:71223058..71223066hg38UCSC Ensembl
chr2:71450188..71450196hg19UCSC 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 Variantsnssv16916069
Samples
Known GenesPAIP2B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5402241
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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