A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17026147



Internal ID85168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:89429811..89432038hg38UCSC Ensembl
chr9:92044726..92046953hg19UCSC Ensembl
Cytoband9q22.2
Allele length
AssemblyAllele length
hg382228
hg192228
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5483875
Supporting Variants
Samples
Known GenesSEMA4D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17026147
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001718


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