A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4114094



Internal ID20347448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:90889385..90896314hg38UCSC Ensembl
chr5:90185202..90192131hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg386930
hg196930
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15903667
Samples
Known GenesGPR98
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)nsv4114094
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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