A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15983343



Internal ID19708597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:11539713..11633717hg38UCSC Ensembl
chr8:11397222..11491226hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3894005
hg1994005
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4162487
Supporting Variants
Samples
Known GenesBLK, LINC00208
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)nssv15983343
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000599


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