A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15987477



Internal ID19712731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:33714384..33714385hg38UCSC Ensembl
chr11:33735930..33735931hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg38868
hg19868
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4576103
Supporting Variants
Samples
Known GenesCD59
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)nssv15987477
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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