A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15928594



Internal ID20000534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:52658019..52658871hg38UCSC Ensembl
chr8:53570579..53571431hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38853
hg19853
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4153388
Supporting Variants
Samples
Known GenesRB1CC1
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 ID32461652
Accession Number(s)nssv15928594
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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