A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15947255



Internal ID20019195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:14033588..14035225hg38UCSC Ensembl
chr10:14075587..14077224hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg381638
hg191638
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4190468
Supporting Variants
Samples
Known GenesFRMD4A
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)nssv15947255
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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