A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4238983



Internal ID20436830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:82995619..83432800hg38UCSC Ensembl
chr16:83029224..83466405hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg38437182
hg19437182
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15957681
Samples
Known GenesCDH13
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)nsv4238983
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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