A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4576134



Internal ID20306009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:66068485..66068486hg38UCSC Ensembl
chr11:65835956..65835957hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg381031
hg191031
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15991445
Samples
Known GenesSF3B2
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)nsv4576134
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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