A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15986478



Internal ID19711732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:88988407..89006701hg38UCSC Ensembl
chr9:91603322..91621616hg19UCSC Ensembl
Cytoband9q22.1
Allele length
AssemblyAllele length
hg3818295
hg1918295
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4187782
Supporting Variants
Samples
Known GenesC9orf47, S1PR3, SHC3
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)nssv15986478
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000138


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