A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4080811



Internal ID20322832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:43440614..43443353hg38UCSC Ensembl
chr3:43482106..43484845hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg382740
hg192740
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15879940
Samples
Known GenesANO10
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)nsv4080811
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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