A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17696535



Internal ID120201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:39379982..39404953hg38UCSC Ensembl
chr14:39849186..39874157hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg3824972
hg1924972
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5503982
Supporting Variants
Samples
Known GenesFBXO33
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17696535
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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