A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4208388



Internal ID20415258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:94508232..94514055hg38UCSC Ensembl
chr11:94241398..94247221hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg385824
hg195824
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15805423
Samples
Known GenesLOC643037
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)nsv4208388
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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