A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4234776



Internal ID20087308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:56516041..56516726hg38UCSC Ensembl
chr16:56549953..56550638hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg38686
hg19686
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15831172
Samples
Known GenesBBS2
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 ID12345678
Accession Number(s)nsv4234776
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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