A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4127354



Internal ID20010105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138288492..138289898hg38UCSC Ensembl
chr5:137624181..137625587hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg381407
hg191407
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15906811
Samples
Known GenesCDC25C
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)nsv4127354
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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