A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4232361



Internal ID20085693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:24472664..24868379hg38UCSC Ensembl
chr13:25046802..25442517hg19UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg38395716
hg19395716
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15953807
Samples
Known GenesATP12A, PARP4, RNF17, TPTE2P6
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)nsv4232361
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer