A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17698973



Internal ID122639
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 StatusS
Merged Variantsnsv5503428
Supporting Variants
Samples
Known GenesDIO2, DIO2-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17698973
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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