A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5421817



Internal ID200880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:46851047..46968877hg38UCSC Ensembl
chr1:47316719..47434549hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38117831
hg19117831
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16901898
Samples
Known GenesCYP4A11, CYP4Z2P
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5421817
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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