A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4105756



Internal ID20341344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:169759877..169762701hg38UCSC Ensembl
chr4:170681028..170683852hg19UCSC Ensembl
Cytoband4q33
Allele length
AssemblyAllele length
hg382825
hg192825
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1898n166
Supporting Variantsnssv15897692
Samples
Known Genes
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)nsv4105756
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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