A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4233203



Internal ID20432938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:3260983..3266388hg38UCSC Ensembl
chr16:3310983..3316388hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg385406
hg195406
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv843n166
Supporting Variantsnssv15954118
Samples
Known GenesLINC00921
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)nsv4233203
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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