A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4085164



Internal ID20326061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:122862607..122863234hg38UCSC Ensembl
chr3:122581454..122582081hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38628
hg19628
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15882915
Samples
Known GenesDIRC2
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)nsv4085164
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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