A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4270741



Internal ID20111912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43586415..43601548hg38UCSC Ensembl
chr19:44090567..44105700hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg3815134
hg1915134
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15961830
Samples
Known GenesIRGQ, ZNF576
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)nsv4270741
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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