A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15985082



Internal ID19710336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:69677693..69698825hg38UCSC Ensembl
chr8:70589928..70611060hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg3821133
hg1921133
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4161105
Supporting Variants
Samples
Known GenesSLCO5A1
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)nssv15985082
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000138


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