A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5481114



Internal ID258609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:77892672..79068919hg38UCSC Ensembl
chr9:80507588..81683835hg19UCSC Ensembl
Cytoband9q21.2
Allele length
AssemblyAllele length
hg381176248
hg191176248
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17025990
Samples
Known GenesCEP78, GNAQ, PSAT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5481114
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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