A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4092921



Internal ID20331740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:15870961..15923428hg38UCSC Ensembl
chr4:15872584..15925051hg19UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg3852468
hg1952468
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1781n166
Supporting Variantsnssv15973316
Samples
Known Genes
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)nsv4092921
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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