A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4230172



Internal ID20430773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73843905..73854390hg38UCSC Ensembl
chr14:74310608..74321093hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3810486
hg1910486
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15956921
Samples
Known GenesPTGR2
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)nsv4230172
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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