A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5521476



Internal ID297771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:22349160..22349212hg38UCSC Ensembl
chr18:19929123..19929175hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17716600
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5521476
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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