A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4258479



Internal ID20450031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:21736435..21849023hg38UCSC Ensembl
chr19:21919237..22031825hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38112589
hg19112589
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1138n166
Supporting Variantsnssv15844422
Samples
Known GenesLOC641367, ZNF100, ZNF43
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)nsv4258479
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer