A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4277812



Internal ID20115436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:38810727..38833891hg38UCSC Ensembl
chr20:37439370..37462534hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg3823165
hg1923165
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15965569
Samples
Known GenesPPP1R16B
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)nsv4277812
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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