A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15978418



Internal ID20050358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:15285197..15289631hg38UCSC Ensembl
chr6:15285428..15289862hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg384435
hg194435
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4129395
Supporting Variants
Samples
Known GenesJARID2
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)nssv15978418
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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