A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4567340



Internal ID20297225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:61546516..61546517hg38UCSC Ensembl
chr14:62013234..62013235hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg38592
hg19592
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16007701
Samples
Known GenesPRKCH
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 ID32461652
Accession Number(s)nsv4567340
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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