A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4233353



Internal ID20433035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:68830104..68832538hg38UCSC Ensembl
chr16:68864007..68866441hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg382435
hg192435
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15829406
Samples
Known GenesCDH1
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)nsv4233353
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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