A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4226474



Internal ID20081440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:99349053..99359786hg38UCSC Ensembl
chr13:100001307..100012040hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg3810734
hg1910734
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15818168
Samples
Known GenesFKSG29, MIR548AN, MIR623, UBAC2
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)nsv4226474
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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