A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4251241



Internal ID20445001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:80646103..80678103hg38UCSC Ensembl
chr16:80680000..80712000hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg3832001
hg1932001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15830855
Samples
Known GenesCDYL2
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)nsv4251241
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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