A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15982613



Internal ID19707867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:129893121..129922512hg38UCSC Ensembl
chr7:129532961..129562352hg19UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg3829392
hg1929392
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4166669
Supporting Variants
Samples
Known GenesUBE2H
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)nssv15982613
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