A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4260376



Internal ID20451349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:23236983..23245436hg38UCSC Ensembl
chr18:20816947..20825400hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg388454
hg198454
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15839217
Samples
Known GenesCABLES1
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)nsv4260376
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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