A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4205296



Internal ID20412994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:68560628..68564035hg38UCSC Ensembl
chr11:68328096..68331503hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg383408
hg193408
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15947444
Samples
Known GenesPPP6R3
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)nsv4205296
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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