A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15850497



Internal ID19922485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247670822..247920247hg38UCSC Ensembl
chr1:247834124..248083549hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38249426
hg19249426
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4066600
Supporting Variants
Samples
Known GenesOR11L1, OR13G1, OR14A16, OR1C1, OR2W3, OR6F1, TRIM58
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)nssv15850497
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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