A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15788517



Internal ID19513872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:40272112..40421309hg38UCSC Ensembl
chr17:38428364..38577561hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38149198
hg19149198
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4334447
Supporting Variants
Samples
Known GenesCDC6, GJD3, RARA, TOP2A, WIPF2
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nssv15788517
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000415


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