A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15960241



Internal ID19685495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:7659061..7686708hg38UCSC Ensembl
chr19:7723947..7751594hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3827648
hg1927648
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4271195
Supporting Variants
Samples
Known GenesC19orf59, RETN, TRAPPC5
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)nssv15960241
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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