A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4204947



Internal ID20412733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:57723639..57734007hg38UCSC Ensembl
chr11:57491111..57501479hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg3810369
hg1910369
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15952988
Samples
Known GenesTMX2, TMX2-CTNND1
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)nsv4204947
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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