A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4260702



Internal ID20451581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:49678743..49694743hg38UCSC Ensembl
chr19:50182000..50198000hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3816001
hg1916001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1191n166
Supporting Variantsnssv15960500
Samples
Known GenesADM5, CPT1C, MIR5088, PRMT1
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)nsv4260702
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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