A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5395275



Internal ID174699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:47883035..47883086hg38UCSC Ensembl
chr2:48110174..48110225hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38234
hg19234
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17724495
Samples
Known GenesFBXO11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5395275
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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