A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4209569



Internal ID20069420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:5153221..5238138hg38UCSC Ensembl
chr11:5174451..5259368hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3884918
hg1984918
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv325n166
Supporting Variantsnssv15798168
Samples
Known GenesHBB, HBD, OR51V1
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nsv4209569
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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