A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15809374



Internal ID19534774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53470145..53471329hg38UCSC Ensembl
chr12:53863929..53865113hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg381185
hg191185
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4200969
Supporting Variants
Samples
Known GenesPCBP2
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 ID12345678
Accession Number(s)nssv15809374
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000138


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