A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4193003



Internal ID20404091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:133028014..133185098hg38UCSC Ensembl
chr10:134841518..134998602hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38157085
hg19157085
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv310n166
Supporting Variantsnssv15947612
Samples
Known GenesGPR123, KNDC1
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)nsv4193003
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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