A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4240616



Internal ID20091257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:74723443..74758383hg38UCSC Ensembl
chr15:75015784..75050724hg19UCSC Ensembl
Cytoband15q24.1
Allele length
AssemblyAllele length
hg3834941
hg1934941
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15826185
Samples
Known GenesCYP1A1, CYP1A2
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)nsv4240616
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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