A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4249354



Internal ID20443757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:68988452..68996652hg38UCSC Ensembl
chr15:69280791..69288991hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg388201
hg198201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15827298
Samples
Known GenesMIR548H4, NOX5
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)nsv4249354
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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