A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15864851



Internal ID19936791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:28606608..28613177hg38UCSC Ensembl
chr2:28829475..28836044hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg386570
hg196570
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4066826
Supporting Variants
Samples
Known GenesPLB1
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)nssv15864851
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000092


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