A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4226185



Internal ID20427913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:99378521..99384506hg38UCSC Ensembl
chr13:100030775..100036760hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg385986
hg195986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15818170
Samples
Known GenesMIR548AN, 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 ID32461652
Accession Number(s)nsv4226185
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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