A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4186021



Internal ID20052371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:122553726..122671201hg38UCSC Ensembl
chr9:125316005..125433480hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg38117476
hg19117476
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15940276
Samples
Known GenesOR1B1, OR1L1, OR1L8, OR1N2, OR1Q1
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)nsv4186021
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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