A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4249455



Internal ID20443830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:47540858..47563211hg38UCSC Ensembl
chr16:47574769..47597122hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3822354
hg1922354
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15954275
Samples
Known GenesPHKB
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)nsv4249455
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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