A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4207820



Internal ID20414838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:1754457..1754581hg38UCSC Ensembl
chr11:1775687..1775811hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15949616
Samples
Known GenesCTSD, MOB2
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)nsv4207820
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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