A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5421861



Internal ID200922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:46036519..46154038hg38UCSC Ensembl
chr1:46502191..46619710hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38117520
hg19117520
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16904903
Samples
Known GenesPIK3R3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5421861
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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