A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4289517



Internal ID20120622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:35166715..35176647hg38UCSC Ensembl
chr20:33754518..33764450hg19UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg389933
hg199933
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15965508
Samples
Known GenesPROCR
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)nsv4289517
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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