A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4262000



Internal ID20452487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:23629022..23849400hg38UCSC Ensembl
chr19:23811824..24032202hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38220379
hg19220379
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15959731
Samples
Known GenesRPSAP58, ZNF675, ZNF681
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)nsv4262000
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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