A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15983499



Internal ID19708753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:18221889..18413567hg38UCSC Ensembl
chr8:18079398..18271077hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38191679
hg19191680
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4172297
Supporting Variants
Samples
Known GenesNAT1, NAT2
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)nssv15983499
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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