A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15984020



Internal ID19709274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:23525487..23530487hg38UCSC Ensembl
chr8:23383000..23388000hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg385001
hg195001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4162730
Supporting Variants
Samples
Known GenesSLC25A37
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)nssv15984020
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000998


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