A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15962680



Internal ID20034620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:57821631..57850632hg38UCSC Ensembl
chr19:58332999..58362000hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg3829002
hg1929002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4537354
Supporting Variants
Samples
Known GenesFKBP1AP1, ZNF587, ZNF587B
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)nssv15962680
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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