A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4259981



Internal ID20104392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55962353..56088231hg38UCSC Ensembl
chr19:56473719..56599600hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg38125879
hg19125882
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1206n166
Supporting Variantsnssv15962432
Samples
Known GenesNLRP5, NLRP8, ZNF787
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)nsv4259981
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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