A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4206572



Internal ID20413930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:72404070..72568040hg38UCSC Ensembl
chr11:72115114..72279084hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38163971
hg19163971
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15953004
Samples
Known GenesCLPB
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)nsv4206572
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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