A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4179296



Internal ID20047608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:122390746..122584671hg38UCSC Ensembl
chr9:125153025..125346950hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg38193926
hg19193926
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15940269
Samples
Known GenesOR1J1, OR1J2, OR1J4, OR1L8, OR1N1, OR1N2, PTGS1
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)nsv4179296
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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