A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15892413



Internal ID19617667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:122833196..122833837hg38UCSC Ensembl
chr4:123754351..123754992hg19UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg38642
hg19642
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4105526
Supporting Variants
Samples
Known GenesFGF2
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)nssv15892413
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000047


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