A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15983320



Internal ID20055260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:10829849..11153243hg38UCSC Ensembl
chr8:10687359..11010753hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38323395
hg19323395
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4170080
Supporting Variants
Samples
Known GenesMIR598, PINX1, XKR6
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)nssv15983320
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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