A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15937321



Internal ID20009261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:86206496..86228810hg38UCSC Ensembl
chr9:88821411..88843725hg19UCSC Ensembl
Cytoband9q21.33
Allele length
AssemblyAllele length
hg3822315
hg1922315
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4179307
Supporting Variants
Samples
Known GenesC9orf153
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)nssv15937321
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000553


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