A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15952955



Internal ID19678209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:55870983..56602235hg38UCSC Ensembl
chr11:55638459..56369711hg19UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg38731253
hg19731253
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4212087
Supporting Variants
Samples
Known GenesOR10AG1, OR5AS1, OR5F1, OR5I1, OR5J2, OR5M10, OR5M11, OR5M3, OR5M8, OR5M9, OR5R1, OR5T1, OR5T2, OR5T3, OR5W2, OR7E5P, OR8H1, OR8H2, OR8H3, OR8I2, OR8J1, OR8J3, OR8K1, OR8K3, OR8K5, OR8U1, OR8U8, TRIM51
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)nssv15952955
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000277


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer