A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4211296



Internal ID20070653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:26970453..27220453hg38UCSC Ensembl
chr11:26992000..27242000hg19UCSC Ensembl
Cytoband11p14.1
Allele length
AssemblyAllele length
hg38250001
hg19250001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15801420
Samples
Known GenesBBOX1, FIBIN
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)nsv4211296
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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