A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15902965



Internal ID19628219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69377470..69377678hg38UCSC Ensembl
chr5:68673297..68673505hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38209
hg19209
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4123386
Supporting Variants
Samples
Known GenesRAD17
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 ID12345678
Accession Number(s)nssv15902965
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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