A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5485919



Internal ID263299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:33787875..34192689hg38UCSC Ensembl
chr9:33787873..34192687hg19UCSC Ensembl
Cytoband9p13.3
Allele length
AssemblyAllele length
hg38404815
hg19404815
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17023564
Samples
Known GenesDCAF12, PRSS3, SNORD121A, SNORD121B, UBAP1, UBAP2, UBE2R2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5485919
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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