A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15791403



Internal ID19516793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:73821588..73822012hg38UCSC Ensembl
chr8:74733823..74734247hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg38425
hg19425
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4559834
Supporting Variants
Samples
Known GenesUBE2W
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nssv15791403
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.010558


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