A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15844588



Internal ID19916674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:31558094..31593094hg38UCSC Ensembl
chr19:32049000..32084000hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg3835001
hg1935001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4264487
Supporting Variants
Samples
Known GenesTHEG5
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)nssv15844588
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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