A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15938931



Internal ID20010871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:113099719..113127220hg38UCSC Ensembl
chr9:115861999..115889500hg19UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3827502
hg1927502
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4526126
Supporting Variants
Samples
Known GenesFAM225A, FAM225B
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)nssv15938931
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000691


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