A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15798173



Internal ID19523573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:5167007..5239658hg38UCSC Ensembl
chr11:5188237..5260888hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3872652
hg1972652
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4196595
Supporting Variants
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)nssv15798173
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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