A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4209247



Internal ID20415883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:93796866..93797406hg38UCSC Ensembl
chr11:93530032..93530572hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg38541
hg19541
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15948977
Samples
Known GenesMED17
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)nsv4209247
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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