A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15802994



Internal ID19875080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:61477378..61488028hg38UCSC Ensembl
chr11:61244850..61255500hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg3810651
hg1910651
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4211377
Supporting Variants
Samples
Known GenesPPP1R32
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)nssv15802994
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000642


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