A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4161341



Internal ID20381312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:103313076..103314557hg38UCSC Ensembl
chr8:104325304..104326785hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg381482
hg191482
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15933529
Samples
Known GenesFZD6
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)nsv4161341
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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