A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16000409



Internal ID20072365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:89430146..89430147hg38UCSC Ensembl
chr12:89823923..89823924hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4502604
Supporting Variants
Samples
Known GenesPOC1B
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)nssv16000409
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000323


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