A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15966341



Internal ID19691595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:43018424..43122282hg38UCSC Ensembl
chr22:43414430..43518288hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38103859
hg19103859
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4279013
Supporting Variants
Samples
Known GenesBIK, TTLL1
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)nssv15966341
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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