A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15788745



Internal ID19860790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:9665494..9666383hg38UCSC Ensembl
chr19:9776170..9777059hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38890
hg19890
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4339980
Supporting Variants
Samples
Known GenesZNF562
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nssv15788745
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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