A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15982709



Internal ID20054649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:6721441..6875040hg38UCSC Ensembl
chr8:6578962..6732562hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38153600
hg19153601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4524618
Supporting Variants
Samples
Known GenesAGPAT5, DEFB1, LOC100652791, MIR4659A, MIR4659B, XKR5
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)nssv15982709
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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