A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15932788



Internal ID19658042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:94376422..94382905hg38UCSC Ensembl
chr8:95388650..95395133hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg386484
hg196484
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4170213
Supporting Variants
Samples
Known GenesRAD54B
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)nssv15932788
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000049


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