A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15984100



Internal ID19709354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:31062503..31063867hg38UCSC Ensembl
chr8:30920019..30921383hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg381365
hg191365
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4155482
Supporting Variants
Samples
Known GenesWRN
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)nssv15984100
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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