A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4126080



Internal ID20355853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:176802999..176817999hg38UCSC Ensembl
chr5:176230000..176245000hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3815001
hg1915001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15975332
Samples
Known GenesUNC5A
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)nsv4126080
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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