A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4054516



Internal ID19832383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:204099689..204100562hg38UCSC Ensembl
chr1:204068817..204069690hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38874
hg19874
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15964098
Samples
Known GenesSOX13
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)nsv4054516
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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