A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4222645



Internal ID20078741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:95646378..95665989hg38UCSC Ensembl
chr14:96112715..96132326hg19UCSC Ensembl
Cytoband14q32.13
Allele length
AssemblyAllele length
hg3819612
hg1919612
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15952653
Samples
Known GenesTCL6
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)nsv4222645
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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