A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15950882



Internal ID20022822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:23066348..23066525hg38UCSC Ensembl
chr14:23535557..23535734hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38178
hg19178
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4231251
Supporting Variants
Samples
Known GenesACIN1
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 ID32461652
Accession Number(s)nssv15950882
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002358


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