A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4229206



Internal ID20083413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:96531588..96532419hg38UCSC Ensembl
chr14:96997925..96998756hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38832
hg19832
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15822654
Samples
Known GenesPAPOLA
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)nsv4229206
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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