A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15971467



Internal ID20043407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:10213261..10302267hg38UCSC Ensembl
chr3:10254945..10343951hg19UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg3889007
hg1989007
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4087204
Supporting Variants
Samples
Known GenesGHRL, GHRLOS, IRAK2, LINC00852, SEC13, TATDN2
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)nssv15971467
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