A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15866127



Internal ID19591381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:49961277..49961385hg38UCSC Ensembl
chr22:50354925..50355033hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38109
hg19109
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4277680
Supporting Variants
Samples
Known GenesPIM3
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)nssv15866127
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000092


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