A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4218079



Internal ID20075517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:75538079..75539753hg38UCSC Ensembl
chr14:76004422..76006096hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg381675
hg191675
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15952772
Samples
Known GenesBATF
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)nsv4218079
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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