A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4256260



Internal ID20448458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:35772331..35785451hg38UCSC Ensembl
chr19:36263233..36276353hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg3813121
hg1913121
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15845000
Samples
Known GenesARHGAP33
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)nsv4256260
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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