A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15974533



Internal ID20046473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:159320783..159320926hg38UCSC Ensembl
chr4:160241935..160242078hg19UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg38144
hg19144
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4108166
Supporting Variants
Samples
Known GenesRAPGEF2
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)nssv15974533
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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