A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15958365



Internal ID20030305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80235112..80265344hg38UCSC Ensembl
chr17:78208911..78239143hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3830233
hg1930233
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4259550
Supporting Variants
Samples
Known GenesRNF213, SLC26A11
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)nssv15958365
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000138


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