A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4063331



Internal ID20310101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:224150223..224151916hg38UCSC Ensembl
chr1:224337925..224339618hg19UCSC Ensembl
Cytoband1q42.11
Allele length
AssemblyAllele length
hg381694
hg191694
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15849046
Samples
Known GenesFBXO28
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 ID32461652
Accession Number(s)nsv4063331
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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