A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4148163



Internal ID20371772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:166838192..166847859hg38UCSC Ensembl
chr6:167251680..167261347hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg389668
hg199668
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15916853
Samples
Known GenesRPS6KA2
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)nsv4148163
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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