A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4201396



Internal ID20063517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:4560919..4669991hg38UCSC Ensembl
chr11:4582149..4691221hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38109073
hg19109073
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15798128
Samples
Known GenesC11orf40, OR51D1, OR51E1, OR52I1, OR52I2, TRIM68
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)nsv4201396
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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