A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15937230



Internal ID20009170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:94731215..94745280hg38UCSC Ensembl
chr9:97493497..97507562hg19UCSC Ensembl
Cytoband9q22.32
Allele length
AssemblyAllele length
hg3814066
hg1914066
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4179780
Supporting Variants
Samples
Known GenesC9orf3
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)nssv15937230
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000092


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