A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4220553



Internal ID20077278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:22679691..22815391hg38UCSC Ensembl
chr14:23148900..23284600hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38135701
hg19135701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15950874
Samples
Known GenesOXA1L, SLC7A7
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)nsv4220553
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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