A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4068817



Internal ID20314068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:25649689..25705841hg38UCSC Ensembl
chr2:25872558..25928710hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg3856153
hg1956153
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15967809
Samples
Known GenesDTNB
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)nsv4068817
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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