A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4212739



Internal ID20071712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:75566770..75675111hg38UCSC Ensembl
chr13:76140906..76249247hg19UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg38108342
hg19108342
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15954687
Samples
Known GenesLMO7, UCHL3
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)nsv4212739
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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