A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4553675



Internal ID19936864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:24325209..24325210hg38UCSC Ensembl
chr14:24794415..24794416hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38303
hg19303
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16007873
Samples
Known GenesADCY4
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)nsv4553675
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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