A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4222959



Internal ID20078960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:75289743..75289809hg38UCSC Ensembl
chr13:75863879..75863945hg19UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15816416
Samples
Known GenesTBC1D4
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)nsv4222959
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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