A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4522151



Internal ID20252270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:65633442..65634186hg38UCSC Ensembl
chr5:64929269..64930013hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg38745
hg19745
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15976818
Samples
Known GenesTRAPPC13
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)nsv4522151
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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