A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4258179



Internal ID20449819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:35660728..35669477hg38UCSC Ensembl
chr19:36151630..36160379hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg388750
hg198750
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15844995
Samples
Known GenesUPK1A, UPK1A-AS1
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)nsv4258179
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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