A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17411882



Internal ID22469752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:135933751..135934106hg38UCSC Ensembl
chr5:135269440..135269795hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38356
hg19356
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5893768
Supporting Variants
Samples
Known GenesFBXL21
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17411882
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.005


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