A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15884129



Internal ID19956069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:97922680..97922909hg38UCSC Ensembl
chr3:97641524..97641753hg19UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg38230
hg19230
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4082797
Supporting Variants
Samples
Known GenesCRYBG3
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)nssv15884129
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000092


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