A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15825819



Internal ID19551219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:38487702..38490306hg38UCSC Ensembl
chr15:38779903..38782507hg19UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg382605
hg192605
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4245977
Supporting Variants
Samples
Known GenesRASGRP1
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)nssv15825819
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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