A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4517586



Internal ID20247705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:213266770..213268367hg38UCSC Ensembl
chr1:213440113..213441710hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381598
hg191598
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15848312
Samples
Known GenesRPS6KC1
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)nsv4517586
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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