A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15826514



Internal ID19898600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:10776200..10785181hg38UCSC Ensembl
chr16:10870057..10879038hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg388982
hg198982
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4238445
Supporting Variants
Samples
Known GenesTVP23A
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)nssv15826514
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000048


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