A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4214937



Internal ID20419971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113105770..113147336hg38UCSC Ensembl
chr13:113760084..113801650hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3841567
hg1941567
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15952005
Samples
Known GenesF10, F7
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 ID32461652
Accession Number(s)nsv4214937
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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