A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15829874



Internal ID19555274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:20310535..20311794hg38UCSC Ensembl
chr16:20321857..20323116hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg381260
hg191260
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4244216
Supporting Variants
Samples
Known GenesGP2
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 ID12345678
Accession Number(s)nssv15829874
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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