A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15973771



Internal ID19699025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:109326844..109455844hg38UCSC Ensembl
chr4:110248000..110377000hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg38129001
hg19129001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4107811
Supporting Variants
Samples
Known GenesSEC24B, SEC24B-AS1
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)nssv15973771
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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