A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4571257



Internal ID20301136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:102887119..102887120hg38UCSC Ensembl
chr13:103539469..103539470hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg382654
hg192654
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16007343
Samples
Known GenesMETTL21EP
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)nsv4571257
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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