A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4203222



Internal ID20064799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:27972719..28210166hg38UCSC Ensembl
chr11:27994266..28231713hg19UCSC Ensembl
Cytoband11p14.1
Allele length
AssemblyAllele length
hg38237448
hg19237448
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15945984
Samples
Known GenesKIF18A, METTL15, MIR610
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 ID12345678
Accession Number(s)nsv4203222
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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