A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4559834



Internal ID19943030
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 StatusM
Merged Variants
Supporting Variantsnssv15791403
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)nsv4559834
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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