A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4226754



Internal ID20428320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:20223037..20531805hg38UCSC Ensembl
chr13:20797176..21105944hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38308769
hg19308769
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15813108
Samples
Known GenesCRYL1, GJB6, MIR4499
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)nsv4226754
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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