A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4239458



Internal ID20437166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:10637864..10672165hg38UCSC Ensembl
chr16:10731721..10766022hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg3834302
hg1934302
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15826500
Samples
Known GenesTEKT5
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)nsv4239458
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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