A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4193544



Internal ID20057807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:118353753..118367787hg38UCSC Ensembl
chr11:118224468..118238502hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3814035
hg1914035
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15948089
Samples
Known GenesCD3G, UBE4A
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)nsv4193544
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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