A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15929409



Internal ID19654663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:119953778..119996602hg38UCSC Ensembl
chr8:120966018..121008841hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg3842825
hg1942824
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4154467
Supporting Variants
Samples
Known GenesDEPTOR
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)nssv15929409
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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