A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4521157



Internal ID19904587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:133959646..133959987hg38UCSC Ensembl
chr3:133678490..133678831hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38342
hg19342
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15972316
Samples
Known GenesSLCO2A1
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)nsv4521157
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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