A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15979438



Internal ID19704692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:137010133..137017802hg38UCSC Ensembl
chr6:137331270..137338939hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg387670
hg197670
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4144215
Supporting Variants
Samples
Known GenesIL20RA
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)nssv15979438
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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