A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4285322



Internal ID20118743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:43016623..43043103hg38UCSC Ensembl
chr22:43412629..43439109hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3826481
hg1926481
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1559n166
Supporting Variantsnssv15865434
Samples
Known GenesTTLL1
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)nsv4285322
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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