A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15975722



Internal ID19700976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:183655847..183660847hg38UCSC Ensembl
chr4:184577000..184582000hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg385001
hg195001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4119080
Supporting Variants
Samples
Known GenesRWDD4, TRAPPC11
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 ID12345678
Accession Number(s)nssv15975722
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000186


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