A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15890881



Internal ID19962821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:48006093..48009348hg38UCSC Ensembl
chr4:48008110..48011365hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg383256
hg193256
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4105052
Supporting Variants
Samples
Known GenesCNGA1
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)nssv15890881
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000092


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