A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17698981



Internal ID122647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:80337201..80343221hg38UCSC Ensembl
chr14:80803544..80809564hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg386021
hg196021
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5504009
Supporting Variants
Samples
Known GenesDIO2-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17698981
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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