A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15972797



Internal ID20044737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:120194414..120210808hg38UCSC Ensembl
chr4:121115569..121131963hg19UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg3816395
hg1916395
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4093390
Supporting Variants
Samples
Known Genes
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)nssv15972797
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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