A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4131776



Internal ID20359883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:95407870..95411382hg38UCSC Ensembl
chr5:94743574..94747086hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg383513
hg193513
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15901286
Samples
Known GenesFAM81B
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)nsv4131776
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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