A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15973567



Internal ID19698821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:151015692..151400346hg38UCSC Ensembl
chr4:151936844..152321498hg19UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg38384655
hg19384655
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4111835
Supporting Variants
Samples
Known GenesPRSS48, RPS3A, SH3D19, SNORD73A
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)nssv15973567
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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