A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4197207



Internal ID20407144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:15785649..15795123hg38UCSC Ensembl
chr11:15807195..15816669hg19UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg389475
hg199475
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv332n166
Supporting Variantsnssv15799024
Samples
Known Genes
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)nsv4197207
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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