A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5474430



Internal ID252089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:124788688..124788849hg38UCSC Ensembl
chr9:127550967..127551128hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38162
hg19162
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17028640
Samples
Known GenesOLFML2A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5474430
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer