A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15962482



Internal ID20034422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:53724322..53862829hg38UCSC Ensembl
chr19:54227576..54366083hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38138508
hg19138508
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4265133
Supporting Variants
Samples
Known GenesMIR1283-2, MIR371A, MIR371B, MIR372, MIR373, MIR516A1, MIR516A2, MIR516B1, MIR516B2, MIR517C, MIR518A1, MIR518A2, MIR518D, MIR518E, MIR519A1, MIR519A2, MIR520H, MIR521-1, MIR522, MIR526A2, MIR527, NLRP12
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)nssv15962482
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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