A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5480200



Internal ID257710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:38154926..38157759hg38UCSC Ensembl
chr8:38012444..38015277hg19UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg382834
hg192834
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17010644
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5480200
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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