A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16974398



Internal ID50301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:135933751..135934029hg38UCSC Ensembl
chr5:135269440..135269718hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5462255
Supporting Variants
Samples
Known GenesFBXL21
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16974398
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.178673


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