A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15926875



Internal ID19998816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:11887491..12037691hg38UCSC Ensembl
chr8:11745000..11895200hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38150201
hg19150201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4163187
Supporting Variants
Samples
Known GenesDEFB134, DEFB135, DEFB136
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)nssv15926875
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000093


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