A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15982279



Internal ID20054219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:3545987..4426156hg38UCSC Ensembl
chr8:3403509..4283678hg19UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg38880170
hg19880170
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4157487
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)nssv15982279
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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