A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5594674



Internal ID21543274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:132526542..132529522hg38UCSC Ensembl
chr9:135401929..135404909hg19UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg382981
hg192981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17160134
SamplesHG03486
Known GenesC9orf171
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5594674
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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