A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15984660



Internal ID19709914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:47781786..47782446hg38UCSC Ensembl
chr8:48694347..48695007hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38661
hg19661
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4161736
Supporting Variants
Samples
Known GenesPRKDC
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)nssv15984660
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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