A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4060896



Internal ID20308316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:228162299..228171299hg38UCSC Ensembl
chr1:228350000..228359000hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg389001
hg199001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15964623
Samples
Known GenesIBA57, IBA57-AS1
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)nsv4060896
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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