A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5489082



Internal ID266372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:12382118..12766939hg38UCSC Ensembl
chr9:12382118..12766938hg19UCSC Ensembl
Cytoband9p23
Allele length
AssemblyAllele length
hg38384822
hg19384821
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17020452
Samples
Known GenesTYRP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5489082
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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