A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4208305



Internal ID20415197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:61484853..61491434hg38UCSC Ensembl
chr11:61252325..61258906hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg386582
hg196582
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15802996
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)nsv4208305
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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