A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4569409



Internal ID20299290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:73913297..73913298hg38UCSC Ensembl
chr11:73624342..73624343hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38424
hg19424
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15995339
Samples
Known GenesPAAF1
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)nsv4569409
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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