A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15801816



Internal ID19873902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:72372953..72376007hg38UCSC Ensembl
chr11:72083997..72087051hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg383055
hg193055
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4198311
Supporting Variants
Samples
Known GenesCLPB
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)nssv15801816
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000092


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