A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4104483



Internal ID20340379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:160268374..160281033hg38UCSC Ensembl
chr4:161189526..161202185hg19UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg3812660
hg1912660
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1886n166
Supporting Variantsnssv15896474
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)nsv4104483
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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