A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4241547



Internal ID20438532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:101806664..101920228hg38UCSC Ensembl
chr15:102346867..102460431hg19UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg38113565
hg19113565
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv832n166
Supporting Variantsnssv15953983
Samples
Known GenesOR4F13P, OR4F15
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)nsv4241547
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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