A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4244968



Internal ID20440808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:66964175..66964754hg38UCSC Ensembl
chr16:66998078..66998657hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38580
hg19580
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15830664
Samples
Known GenesCES3
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)nsv4244968
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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