A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15972450



Internal ID19697704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:53047376..54215600hg38UCSC Ensembl
chr3:53081392..54249627hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg381168225
hg191168236
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4074688
Supporting Variants
Samples
Known GenesACTR8, CACNA1D, CACNA2D3, CHDH, DCP1A, IL17RB, PRKCD, RFT1, SELK, TKT
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)nssv15972450
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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