A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4087766



Internal ID20327970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:53166150..53172873hg38UCSC Ensembl
chr3:53200166..53206889hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg386724
hg196724
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15877939
Samples
Known GenesPRKCD
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)nsv4087766
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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