A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4220138



Internal ID20423665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45793759..45793932hg38UCSC Ensembl
chr13:46367894..46368067hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg38174
hg19174
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15956271
Samples
Known GenesSIAH3
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)nsv4220138
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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