A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5406093



Internal ID185434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:109102250..109102301hg38UCSC Ensembl
chr8:110114479..110114530hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17015185
Samples
Known GenesTRHR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5406093
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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