A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4576098



Internal ID20305973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:94977341..94977342hg38UCSC Ensembl
chr10:96737098..96737099hg19UCSC Ensembl
Cytoband10q23.33
Allele length
AssemblyAllele length
hg381314
hg191314
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15994641
Samples
Known GenesCYP2C9
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)nsv4576098
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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