A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15950068



Internal ID19675322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120407039..120454574hg38UCSC Ensembl
chr12:120844842..120892377hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3847536
hg1947536
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4228548
Supporting Variants
Samples
Known GenesCOX6A1, GATC, TRIAP1
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)nssv15950068
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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