A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15962378



Internal ID20034318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54905642..55111032hg38UCSC Ensembl
chr19:55417000..55622400hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38205391
hg19205401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4267153
Supporting Variants
Samples
Known GenesEPS8L1, GP6, NCR1, NLRP2, NLRP7, PPP1R12C, RDH13, RNU6-35P, RNU6-64P
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)nssv15962378
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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