A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4049510



Internal ID19828797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:28257671..28264178hg38UCSC Ensembl
chr1:28584182..28590689hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg386508
hg196508
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15965477
Samples
Known GenesSESN2
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)nsv4049510
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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