A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15970736



Internal ID20042676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:192156540..192156625hg38UCSC Ensembl
chr3:191874329..191874414hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4103741
Supporting Variants
Samples
Known GenesFGF12
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)nssv15970736
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.010311


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