A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15805290



Internal ID19877376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:83254958..83272958hg38UCSC Ensembl
chr11:82966000..82984000hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg3818001
hg1918001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4198122
Supporting Variants
Samples
Known GenesCCDC90B
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)nssv15805290
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000047


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