A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15839558



Internal ID19911644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:41403901..41515645hg38UCSC Ensembl
chr18:38983865..39095609hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg38111745
hg19111745
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4269927
Supporting Variants
Samples
Known GenesKC6
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)nssv15839558
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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