A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4209109



Internal ID20415790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:4329770..4405870hg38UCSC Ensembl
chr11:4351000..4427100hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3876101
hg1976101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15798108
Samples
Known GenesOR52B4, TRIM21
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)nsv4209109
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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