A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15792566



Internal ID19517963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:13094000..13115000hg38UCSC Ensembl
chr10:13136000..13157000hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg3821001
hg1921001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4184454
Supporting Variants
Samples
Known GenesCCDC3, OPTN
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)nssv15792566
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000098


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