A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4246111



Internal ID20441547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:18661687..18678687hg38UCSC Ensembl
chr17:18565000..18582000hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3817001
hg1917001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15834909
Samples
Known GenesFOXO3B, ZNF286B
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)nsv4246111
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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