A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4154833



Internal ID20376593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:13803491..14133491hg38UCSC Ensembl
chr8:13661000..13991000hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38330001
hg19330001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15983392
Samples
Known GenesSGCZ
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)nsv4154833
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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