A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15961837



Internal ID19687091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43715598..43716540hg38UCSC Ensembl
chr19:44219750..44220692hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38943
hg19943
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4258363
Supporting Variants
Samples
Known GenesIRGC
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)nssv15961837
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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