A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16026557



Internal ID20098513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:96804424..96804425hg38UCSC Ensembl
chr1:97269980..97269981hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4463261
Supporting Variants
Samples
Known GenesPTBP2
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)nssv16026557
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00286


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