A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15929090



Internal ID19654344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:28804476..28968668hg38UCSC Ensembl
chr8:28661993..28826185hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38164193
hg19164193
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4158726
Supporting Variants
Samples
Known GenesHMBOX1, INTS9
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)nssv15929090
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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