A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15854547



Internal ID19579801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:111158404..111159213hg38UCSC Ensembl
chr1:111701026..111701835hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38810
hg19810
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4054589
Supporting Variants
Samples
Known GenesCEPT1
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)nssv15854547
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001309


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