A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4233760



Internal ID20433307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:41244857..41249577hg38UCSC Ensembl
chr15:41537055..41541775hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg384721
hg194721
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv785n166
Supporting Variantsnssv15822849
Samples
Known GenesCHP1
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 ID32461652
Accession Number(s)nsv4233760
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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