A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17045320



Internal ID97968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:47194557..47197703hg38UCSC Ensembl
chr11:47216108..47219254hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg383147
hg193147
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5498845
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17045320
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.004215


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