A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15808622



Internal ID19880708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:47206713..47210541hg38UCSC Ensembl
chr12:47600496..47604324hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg383829
hg193829
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4201835
Supporting Variants
Samples
Known GenesPCED1B, PCED1B-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)nssv15808622
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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