A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4254572



Internal ID20447291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:55205520..55214947hg38UCSC Ensembl
chr18:52872751..52882178hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg389428
hg199428
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1068n166
Supporting Variantsnssv15840303
Samples
Known Genes
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)nsv4254572
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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