A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15845942



Internal ID19571337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43585645..43588212hg38UCSC Ensembl
chr19:44089797..44092364hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg382568
hg192568
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4254605
Supporting Variants
Samples
Known GenesIRGQ
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)nssv15845942
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000184


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