A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15935540



Internal ID20007480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:92250615..92250677hg38UCSC Ensembl
chr9:95012897..95012959hg19UCSC Ensembl
Cytoband9q22.31
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4185528
Supporting Variants
Samples
Known GenesIARS
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)nssv15935540
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.006181


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