A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4264683



Internal ID20107678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:10109210..10128547hg38UCSC Ensembl
chr19:10219886..10239223hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3819338
hg1919338
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15962210
Samples
Known GenesEIF3G, P2RY11, PPAN, PPAN-P2RY11, SNORD105B
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 ID12345678
Accession Number(s)nsv4264683
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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