A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15956720



Internal ID20028660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:62052801..62084801hg38UCSC Ensembl
chr15:62345000..62377000hg19UCSC Ensembl
Cytoband15q22.2
Allele length
AssemblyAllele length
hg3832001
hg1932001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4233767
Supporting Variants
Samples
Known GenesC2CD4A, VPS13C
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)nssv15956720
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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