A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5481223



Internal ID258712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:105746552..105786776hg38UCSC Ensembl
chr9:108508833..108549057hg19UCSC Ensembl
Cytoband9q31.2
Allele length
AssemblyAllele length
hg3840225
hg1940225
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17025113
Samples
Known GenesTMEM38B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5481223
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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