A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15886552



Internal ID19958492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:5481603..5491614hg38UCSC Ensembl
chr4:5483330..5493341hg19UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg3810012
hg1910012
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4095146
Supporting Variants
Samples
Known GenesSTK32B
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)nssv15886552
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000762


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