A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5503428



Internal ID280255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:80197085..80340189hg38UCSC Ensembl
chr14:80663428..80806532hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg38143105
hg19143105
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17698973
Samples
Known GenesDIO2, DIO2-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5503428
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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