A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15960078



Internal ID20032018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:45642582..45648366hg38UCSC Ensembl
chr18:43222547..43228331hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg385785
hg195785
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4256774
Supporting Variants
Samples
Known GenesSLC14A2
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)nssv15960078
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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