A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15952762



Internal ID20024702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:54891481..54897111hg38UCSC Ensembl
chr14:55358199..55363829hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg385631
hg195631
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4220117
Supporting Variants
Samples
Known GenesGCH1
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)nssv15952762
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000553


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