A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15862317



Internal ID19587571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29363011..29419011hg38UCSC Ensembl
chr22:29759000..29815000hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3856001
hg1956001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4288029
Supporting Variants
Samples
Known GenesAP1B1
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)nssv15862317
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000047


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