A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16082050



Internal ID19807320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:94723848..94723849hg38UCSC Ensembl
chr8:95736076..95736077hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38659
hg19659
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4571877
Supporting Variants
Samples
Known GenesDPY19L4
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)nssv16082050
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000138


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