A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15959047



Internal ID19684301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:21613716..21614177hg38UCSC Ensembl
chr18:19193677..19194138hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38462
hg19462
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4531013
Supporting Variants
Samples
Known GenesSNRPD1
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)nssv15959047
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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