A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15863498



Internal ID19935438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38831650..38835646hg38UCSC Ensembl
chr22:39227655..39231651hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg383997
hg193997
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4282114
Supporting Variants
Samples
Known GenesNPTXR
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)nssv15863498
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000138


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