A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4203035



Internal ID20411348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:66867119..66872769hg38UCSC Ensembl
chr11:66634590..66640240hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg385651
hg195651
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15947417
Samples
Known GenesPC
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)nsv4203035
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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