A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15825616



Internal ID19551016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:74456231..74462619hg38UCSC Ensembl
chr15:74748572..74754960hg19UCSC Ensembl
Cytoband15q24.1
Allele length
AssemblyAllele length
hg386389
hg196389
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4246651
Supporting Variants
Samples
Known GenesUBL7, UBL7-AS1
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)nssv15825616
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000052


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