A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15982258



Internal ID20054198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:2596063..3281916hg38UCSC Ensembl
chr8:2453154..3139438hg19UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg38685854
hg19686285
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4158894
Supporting Variants
Samples
Known GenesCSMD1
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)nssv15982258
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00023


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