A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16035827



Internal ID20107783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:29536324..29536325hg38UCSC Ensembl
chr2:29759190..29759191hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg383358
hg193358
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4560985
Supporting Variants
Samples
Known GenesALK
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)nssv16035827
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0143


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