A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15890057



Internal ID19961997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:25239430..25239568hg38UCSC Ensembl
chr4:25241052..25241190hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg38139
hg19139
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4112326
Supporting Variants
Samples
Known GenesPI4K2B
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)nssv15890057
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.293952


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