A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15984697



Internal ID19709951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:68087695..68408381hg38UCSC Ensembl
chr8:68999930..69320616hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg38320687
hg19320687
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4161855
Supporting Variants
Samples
Known GenesC8orf34, LOC286189, PREX2
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)nssv15984697
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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