A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15933044



Internal ID19658298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:35802975..35803402hg38UCSC Ensembl
chr9:35802972..35803399hg19UCSC Ensembl
Cytoband9p13.3
Allele length
AssemblyAllele length
hg38428
hg19428
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4187387
Supporting Variants
Samples
Known GenesNPR2
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)nssv15933044
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.290491


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