A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4206951



Internal ID20067523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:74679688..74754076hg38UCSC Ensembl
chr11:74390733..74465121hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3874389
hg1974389
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15953587
Samples
Known GenesCHRDL2, MIR4696, RNF169
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 ID12345678
Accession Number(s)nsv4206951
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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