A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15962988



Internal ID19688242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244860598..244865698hg38UCSC Ensembl
chr1:245023900..245029000hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg385101
hg195101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4056390
Supporting Variants
Samples
Known GenesHNRNPU
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)nssv15962988
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.005823


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