A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15884509



Internal ID19956449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:160128272..160135787hg38UCSC Ensembl
chr3:159846059..159853574hg19UCSC Ensembl
Cytoband3q25.33
Allele length
AssemblyAllele length
hg387516
hg197516
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4108766
Supporting Variants
Samples
Known GenesIL12A-AS1
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)nssv15884509
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000092


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