A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4194672



Internal ID20405312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:103166117..103173591hg38UCSC Ensembl
chr11:103036846..103044320hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg387475
hg197475
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15805198
Samples
Known GenesDYNC2H1
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)nsv4194672
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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