A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15850298



Internal ID19575608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:32052308..32052458hg38UCSC Ensembl
chr1:32517909..32518059hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg38151
hg19151
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4046637
Supporting Variants
Samples
Known GenesKHDRBS1
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)nssv15850298
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000553


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