A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15836211



Internal ID19561611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:38939343..38941476hg38UCSC Ensembl
chr17:37095596..37097729hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg382134
hg192134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4261275
Supporting Variants
Samples
Known GenesFBXO47
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)nssv15836211
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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