A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16008938



Internal ID19734192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:29586636..29586637hg38UCSC Ensembl
chr14:30055842..30055843hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38293
hg19293
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4569601
Supporting Variants
Samples
Known GenesMIR548AI, PRKD1
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)nssv16008938
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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