A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15973185



Internal ID20045125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:87273994..87862944hg38UCSC Ensembl
chr3:87323144..87912094hg19UCSC Ensembl
Cytoband3p11.1
Allele length
AssemblyAllele length
hg38588951
hg19588951
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4074473
Supporting Variants
Samples
Known GenesPOU1F1
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)nssv15973185
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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