A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4093338



Internal ID20332070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:173016286..173091680hg38UCSC Ensembl
chr3:172734076..172809470hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg3875395
hg1975395
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15969868
Samples
Known GenesSPATA16
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)nsv4093338
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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