A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15997926



Internal ID19723180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:15116538..15116539hg38UCSC Ensembl
chr12:15269472..15269473hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg385998
hg195998
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4566437
Supporting Variants
Samples
Known GenesRERG
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)nssv15997926
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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