A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15966365



Internal ID20038305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44010783..44010893hg38UCSC Ensembl
chr22:44406663..44406773hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38111
hg19111
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4285040
Supporting Variants
Samples
Known GenesPARVB
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)nssv15966365
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000277


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