A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15984924



Internal ID20056865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:84380757..84431193hg38UCSC Ensembl
chr8:85292992..85343428hg19UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg3850437
hg1950437
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4163140
Supporting Variants
Samples
Known GenesRALYL
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 ID32461652
Accession Number(s)nssv15984924
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000692


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