A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16079317



Internal ID19804580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:31002342..31002343hg38UCSC Ensembl
chr8:30859858..30859859hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg381210
hg191210
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4561303
Supporting Variants
Samples
Known GenesPURG
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)nssv16079317
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000374


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