A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15852476



Internal ID19924421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53901975..53904057hg38UCSC Ensembl
chr1:54367648..54369730hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg382083
hg192083
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4049889
Supporting Variants
Samples
Known GenesDIO1
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)nssv15852476
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.014843


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