A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4258888



Internal ID20103626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40451239..40462564hg38UCSC Ensembl
chr19:40957146..40968471hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3811326
hg1911326
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15959859
Samples
Known GenesBLVRB
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)nsv4258888
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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