A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4250354



Internal ID20444415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:46851556..47387106hg38UCSC Ensembl
chr15:47143754..47679303hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg38535551
hg19535550
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15953397
Samples
Known GenesSEMA6D
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)nsv4250354
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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