A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4186431



Internal ID20399352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:138100317..138178259hg38UCSC Ensembl
chr9:140994769..141072711hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3877943
hg1977943
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2818n166
Supporting Variantsnssv15987416
Samples
Known GenesCACNA1B, TUBBP5
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)nsv4186431
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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