A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15894300



Internal ID19619554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:109919584..109924580hg38UCSC Ensembl
chr4:110840740..110845736hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg384997
hg194997
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4111793
Supporting Variants
Samples
Known GenesEGF
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)nssv15894300
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.023739


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