A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15871824



Internal ID19943764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:86606438..86608213hg38UCSC Ensembl
chr2:86833561..86835336hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg381776
hg191776
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4054333
Supporting Variants
Samples
Known GenesRNF103, RNF103-CHMP3
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)nssv15871824
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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