A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4151413



Internal ID20374093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:2346365..2420365hg38UCSC Ensembl
chr7:2386000..2460000hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3874001
hg1974001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15979882
Samples
Known GenesCHST12, EIF3B
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)nsv4151413
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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