A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15788746



Internal ID19514105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:10695422..10849576hg38UCSC Ensembl
chr19:10806098..10960252hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38154155
hg19154155
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4343662
Supporting Variants
Samples
Known GenesC19orf38, DNM2, MIR199A1, MIR4748, MIR638, MIR6793, QTRT1, TMED1
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nssv15788746
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000092


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