A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5493750



Internal ID270917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:22750193..22755456hg38UCSC Ensembl
chr8:22607706..22612969hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg385264
hg195264
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17010281
Samples
Known GenesPEBP4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5493750
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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