A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5478454



Internal ID256009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:115575963..115585484hg38UCSC Ensembl
chr9:118338242..118347763hg19UCSC Ensembl
Cytoband9q33.1
Allele length
AssemblyAllele length
hg389522
hg199522
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17027841
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5478454
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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