A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4542278



Internal ID20272153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:112063818..112063819hg38UCSC Ensembl
chr11:111934542..111934543hg19UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg38776
hg19776
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15997811
Samples
Known GenesDLAT
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)nsv4542278
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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