A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4573169



Internal ID19956358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:67966233..67966234hg38UCSC Ensembl
chr8:68878468..68878469hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg385960
hg195960
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16081971
Samples
Known GenesPREX2
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)nsv4573169
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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