A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4105413



Internal ID19994400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:100189397..100192279hg38UCSC Ensembl
chr4:101110554..101113436hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg382883
hg192883
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15894704
Samples
Known GenesDDIT4L
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)nsv4105413
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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