A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15832012



Internal ID19904098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:55549637..55602504hg38UCSC Ensembl
chr16:55583549..55636416hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3852868
hg1952868
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4241354
Supporting Variants
Samples
Known GenesCAPNS2, LPCAT2
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)nssv15832012
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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