A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4122016



Internal ID20353030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:15537829..15548889hg38UCSC Ensembl
chr6:15538060..15549120hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3811061
hg1911061
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15978423
Samples
Known GenesDTNBP1
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)nsv4122016
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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