A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15983482



Internal ID19708736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:17356613..17952092hg38UCSC Ensembl
chr8:17214122..17809601hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38595480
hg19595480
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4164148
Supporting Variants
Samples
Known GenesFGL1, MTMR7, MTUS1, PCM1, PDGFRL, SLC7A2
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)nssv15983482
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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