A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4526498



Internal ID20256617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:99014121..99015216hg38UCSC Ensembl
chr8:100026349..100027444hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg381096
hg191096
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15933416
Samples
Known GenesVPS13B
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)nsv4526498
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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