A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4234232



Internal ID20086928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4936705..4948455hg38UCSC Ensembl
chr17:4840000..4851750hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3811751
hg1911751
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15958104
Samples
Known GenesPFN1, RNF167, SLC25A11
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)nsv4234232
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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