A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15983376



Internal ID19708630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:12991788..13103212hg38UCSC Ensembl
chr8:12849297..12960721hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38111425
hg19111425
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4164090
Supporting Variants
Samples
Known GenesDLC1, KIAA1456
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)nssv15983376
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer