A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15971057



Internal ID20042997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:197602714..197607003hg38UCSC Ensembl
chr2:198467438..198471727hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg384290
hg194290
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4076205
Supporting Variants
Samples
Known GenesRFTN2
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)nssv15971057
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000599


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