A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15937061



Internal ID20009001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:105095719..105113719hg38UCSC Ensembl
chr9:107858000..107876000hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg3818001
hg1918001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4185917
Supporting Variants
Samples
Known Genes
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)nssv15937061
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000048


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