A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4208303



Internal ID20415195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:131447062..131946666hg38UCSC Ensembl
chr10:133245325..133760170hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38499605
hg19514846
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15952224
Samples
Known GenesFLJ46300, PPP2R2D
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)nsv4208303
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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