A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4168402



Internal ID20386465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:38193337..38198117hg38UCSC Ensembl
chr8:38050855..38055635hg19UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg384781
hg194781
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15930503
Samples
Known GenesBAG4
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)nsv4168402
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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