A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4234750



Internal ID20433977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:11095613..11121505hg38UCSC Ensembl
chr16:11189470..11215362hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg3825893
hg1925893
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15954772
Samples
Known GenesCLEC16A
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)nsv4234750
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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