A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4237474



Internal ID20435803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:75003202..75007703hg38UCSC Ensembl
chr15:75295543..75300044hg19UCSC Ensembl
Cytoband15q24.2
Allele length
AssemblyAllele length
hg384502
hg194502
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15826209
Samples
Known GenesSCAMP5
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)nsv4237474
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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