A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15876292



Internal ID19948232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:235643256..235649356hg38UCSC Ensembl
chr2:236551900..236558000hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg386101
hg196101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4092438
Supporting Variants
Samples
Known GenesAGAP1
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)nssv15876292
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00005


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