A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15984958



Internal ID19710212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:86163270..86239771hg38UCSC Ensembl
chr8:87175499..87252000hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg3876502
hg1976502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4526575
Supporting Variants
Samples
Known GenesSLC7A13
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)nssv15984958
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000553


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