A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4115134



Internal ID20348192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:17416641..17507693hg38UCSC Ensembl
chr5:17416750..17507802hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg3891053
hg1991053
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1956n166
Supporting Variantsnssv15976664
Samples
Known Genes
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)nsv4115134
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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