A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4055590



Internal ID19833170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:200618318..200816815hg38UCSC Ensembl
chr1:200587446..200785943hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38198498
hg19198498
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv151n166
Supporting Variantsnssv15964039
Samples
Known GenesCAMSAP2, DDX59, KIF14
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 ID12345678
Accession Number(s)nsv4055590
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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