A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4250816



Internal ID20444714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:101644797..101981097hg38UCSC Ensembl
chr15:102185000..102521300hg19UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg38336301
hg19336301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15953976
Samples
Known GenesDDX11L9, FAM138E, MIR6859-1, MIR6859-2, OR4F13P, OR4F15, OR4F4, OR4F6, TARSL2, TM2D3, WASH3P
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)nsv4250816
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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