A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4206918



Internal ID20414181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:93520180..93529099hg38UCSC Ensembl
chr11:93253346..93262265hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg388920
hg198920
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15805358
Samples
Known GenesSMCO4
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)nsv4206918
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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