A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4231163



Internal ID20084805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:32330851..32366146hg38UCSC Ensembl
chr14:32800057..32835352hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3835296
hg1935296
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15819453
Samples
Known GenesAKAP6
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)nsv4231163
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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