A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4225803



Internal ID20080969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:75213453..75362937hg38UCSC Ensembl
chr13:75787589..75937073hg19UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg38149485
hg19149485
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15954685
Samples
Known GenesCTAGE11P, TBC1D4
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)nsv4225803
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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