A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4209216



Internal ID20069178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:4933641..5211793hg38UCSC Ensembl
chr11:4954871..5233023hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38278153
hg19278153
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15798152
Samples
Known GenesMMP26, OR51A2, OR51A4, OR51L1, OR51V1, OR52A1, OR52A5, OR52E2, OR52J3
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)nsv4209216
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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