A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450374



Internal ID228582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:229848423..230038610hg38UCSC Ensembl
chr2:230713139..230903326hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38190188
hg19190188
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16925033
Samples
Known GenesFBXO36, SLC16A14, TRIP12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450374
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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