A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4238480



Internal ID20436492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:83723356..83734342hg38UCSC Ensembl
chr16:83756961..83767947hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg3810987
hg1910987
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15833383
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)nsv4238480
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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