A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15831303



Internal ID19556703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:48092550..48093662hg38UCSC Ensembl
chr16:48126461..48127573hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg381113
hg191113
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4241381
Supporting Variants
Samples
Known GenesABCC12
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)nssv15831303
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000507


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