A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15797184



Internal ID19869270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:95061268..95066437hg38UCSC Ensembl
chr10:96821025..96826194hg19UCSC Ensembl
Cytoband10q23.33
Allele length
AssemblyAllele length
hg385170
hg195170
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4181774
Supporting Variants
Samples
Known GenesCYP2C8
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)nssv15797184
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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