A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15959499



Internal ID20031439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:42126458..42206895hg38UCSC Ensembl
chr18:39706422..39786860hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3880438
hg1980439
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4252451
Supporting Variants
Samples
Known GenesLINC00907
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)nssv15959499
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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