A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15791631



Internal ID19863710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:93323524..93367096hg38UCSC Ensembl
chr9:96085806..96129378hg19UCSC Ensembl
Cytoband9q22.31
Allele length
AssemblyAllele length
hg3843573
hg1943573
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4569146
Supporting Variants
Samples
Known GenesC9orf129
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nssv15791631
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000831


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