A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15832477



Internal ID19904563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:84400616..84559162hg38UCSC Ensembl
chr16:84434222..84592768hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg38158547
hg19158547
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4233688
Supporting Variants
Samples
Known GenesATP2C2, TLDC1
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)nssv15832477
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000092


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