A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15889999



Internal ID19961939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:23844741..23844830hg38UCSC Ensembl
chr4:23846364..23846453hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4109099
Supporting Variants
Samples
Known GenesPPARGC1A
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)nssv15889999
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000372


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