A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4242919



Internal ID20439444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:9239125..9283219hg38UCSC Ensembl
chr16:9332982..9377076hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3844095
hg1944095
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv869n166
Supporting Variantsnssv15954739
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)nsv4242919
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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