A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4231274



Internal ID20084890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:34815777..34933122hg38UCSC Ensembl
chr14:35284983..35402328hg19UCSC Ensembl
Cytoband14q13.1
Allele length
AssemblyAllele length
hg38117346
hg19117346
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15952691
Samples
Known GenesBAZ1A
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)nsv4231274
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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