A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4576538



Internal ID19959727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:99256594..99256595hg38UCSC Ensembl
chr13:99908848..99908849hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg38151
hg19151
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16004838
Samples
Known GenesGPR18, MIR548AN, UBAC2
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)nsv4576538
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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