A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5478121



Internal ID255686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:78232932..78236231hg38UCSC Ensembl
chr9:80847848..80851147hg19UCSC Ensembl
Cytoband9q21.2
Allele length
AssemblyAllele length
hg383300
hg193300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17025300
Samples
Known GenesCEP78
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5478121
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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