A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4209111



Internal ID20415792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:90373019..90500257hg38UCSC Ensembl
chr11:90106187..90233425hg19UCSC Ensembl
Cytoband11q14.3
Allele length
AssemblyAllele length
hg38127239
hg19127239
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv423n166
Supporting Variantsnssv15803515
Samples
Known GenesDISC1FP1
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)nsv4209111
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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