A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15952215



Internal ID20024155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:130866826..131580197hg38UCSC Ensembl
chr10:132665089..133378460hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38713372
hg19713372
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4201446
Supporting Variants
Samples
Known GenesMIR378C, TCERG1L
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)nssv15952215
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