A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15801262



Internal ID19873348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:56312157..56469534hg38UCSC Ensembl
chr11:56079633..56237010hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg38157378
hg19157378
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4208429
Supporting Variants
Samples
Known GenesOR5M3, OR5M9, OR5R1, OR8J1, OR8K1, OR8K3, OR8U1, OR8U8
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)nssv15801262
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000092


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