A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4071547



Internal ID20316020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:237336677..237344792hg38UCSC Ensembl
chr1:237499977..237508092hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg388116
hg198116
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15848151
Samples
Known GenesRYR2
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)nsv4071547
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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