A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4534412



Internal ID19917803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:25548032..25754033hg38UCSC Ensembl
chr22:25943999..26150000hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38206002
hg19206002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15965693
Samples
Known GenesADRBK2, MYO18B
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)nsv4534412
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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