A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4193843



Internal ID20404709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:85120501..85170119hg38UCSC Ensembl
chr11:84831545..84881163hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg3849619
hg1949619
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15953690
Samples
Known GenesDLG2
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)nsv4193843
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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