A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4565344



Internal ID20295232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:17945978..17945979hg38UCSC Ensembl
chr11:17967525..17967526hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg381399
hg191399
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15983081
Samples
Known GenesSERGEF
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)nsv4565344
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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