A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4275065



Internal ID20114245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:42086316..42087058hg38UCSC Ensembl
chr22:42482320..42483062hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38743
hg19743
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15865411
Samples
Known GenesNDUFA6
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 ID12345678
Accession Number(s)nsv4275065
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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