A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4199976



Internal ID20409158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:132840168..132993938hg38UCSC Ensembl
chr10:134653672..134807442hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38153771
hg19153771
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv306n166
Supporting Variantsnssv15947595
Samples
Known GenesLOC399829, TTC40
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)nsv4199976
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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