A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4549273



Internal ID20279148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:33699999..33700000hg38UCSC Ensembl
chr11:33721545..33721546hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15987475, nssv15983959
Samples
Known GenesC11orf91
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)nsv4549273
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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