A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15848821



Internal ID19574166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:19692049..19699540hg38UCSC Ensembl
chr1:20018542..20026033hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg387492
hg197492
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4517479
Supporting Variants
Samples
Known GenesTMCO4
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)nssv15848821
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000092


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