A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15949357



Internal ID20021297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:95052263..95052712hg38UCSC Ensembl
chr12:95446039..95446488hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38450
hg19450
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4221308
Supporting Variants
Samples
Known GenesNR2C1
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)nssv15949357
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