A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4223851



Internal ID20426288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132129939..132193895hg38UCSC Ensembl
chr12:132614484..132678440hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3863957
hg1963957
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15950203
Samples
Known GenesDDX51, NOC4L
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)nsv4223851
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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