A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4153218



Internal ID20375412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:88942951..89121952hg38UCSC Ensembl
chr8:89955180..90134181hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg38179002
hg19179002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2618n166
Supporting Variantsnssv15930029
Samples
Known Genes
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)nsv4153218
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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