A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4195204



Internal ID20405698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:79395537..79397374hg38UCSC Ensembl
chr11:79106581..79108418hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg381838
hg191838
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15802733
Samples
Known GenesTENM4
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)nsv4195204
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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