A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15886335



Internal ID19958275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:133233560..133244665hg38UCSC Ensembl
chr3:132952404..132963509hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3811106
hg1911106
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4106812
Supporting Variants
Samples
Known GenesTMEM108
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)nssv15886335
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000095


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