A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4259043



Internal ID20450425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:37625513..37687268hg38UCSC Ensembl
chr18:35205476..35267231hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg3861756
hg1961756
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15959449
Samples
Known GenesMIR4318
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)nsv4259043
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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