A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17697822



Internal ID121488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:69107582..69107699hg38UCSC Ensembl
chr14:69574299..69574416hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5510602
Supporting Variants
Samples
Known GenesDCAF5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17697822
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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