A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15889590



Internal ID19614844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:38797379..38827879hg38UCSC Ensembl
chr4:38799000..38829500hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3830501
hg1930501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4105557
Supporting Variants
Samples
Known GenesTLR1, TLR6
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)nssv15889590
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000279


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