A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4201941



Internal ID20410581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:99561348..99637349hg38UCSC Ensembl
chr11:99432079..99508080hg19UCSC Ensembl
Cytoband11q22.1
Allele length
AssemblyAllele length
hg3876002
hg1976002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15806170
Samples
Known GenesCNTN5
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)nsv4201941
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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