A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15933482



Internal ID19658736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:100151608..100163586hg38UCSC Ensembl
chr8:101163836..101175814hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg3811979
hg1911979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4170332
Supporting Variants
Samples
Known GenesPOLR2K, SPAG1
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 ID12345678
Accession Number(s)nssv15933482
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000138


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