A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5479755



Internal ID257272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:125243035..125245537hg38UCSC Ensembl
chr9:128005314..128007816hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg382503
hg192503
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17028677
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5479755
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