A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4535272



Internal ID19918640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:47318326..47342380hg38UCSC Ensembl
chr19:47821583..47845637hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3824055
hg1924055
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15962299
Samples
Known GenesC5AR1, C5AR2
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)nsv4535272
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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