A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15973802



Internal ID20045742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:112633844..112639144hg38UCSC Ensembl
chr4:113555000..113560300hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg385301
hg195301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4110533
Supporting Variants
Samples
Known GenesC4orf21, LARP7
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)nssv15973802
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003054


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