A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4528320



Internal ID20258439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:16224189..16267646hg38UCSC Ensembl
chr12:16377123..16420580hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3843458
hg1943458
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15951910
Samples
Known GenesSLC15A5
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)nsv4528320
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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