A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15970619



Internal ID20042559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:47684309..47837510hg38UCSC Ensembl
chr3:47725799..47879000hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38153202
hg19153202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4520603
Supporting Variants
Samples
Known GenesDHX30, SMARCC1
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)nssv15970619
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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