A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4573565



Internal ID19956754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:48321427..48321428hg38UCSC Ensembl
chr13:48895563..48895564hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg381227
hg191227
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16006059
Samples
Known GenesRB1
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)nsv4573565
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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