A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4111305



Internal ID20345442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:133884958..133885105hg38UCSC Ensembl
chr3:133603802..133603949hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15972314
Samples
Known GenesRAB6B
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)nsv4111305
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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