A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4200183



Internal ID20409309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:108361523..108376523hg38UCSC Ensembl
chr11:108232250..108247250hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg3815001
hg1915001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15951127
Samples
Known GenesATM
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)nsv4200183
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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