A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4214041



Internal ID20419324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:36054049..36061964hg38UCSC Ensembl
chr13:36628186..36636101hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg387916
hg197916
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15816178
Samples
Known GenesDCLK1
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)nsv4214041
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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