A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15937449



Internal ID20009389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:89010198..89014163hg38UCSC Ensembl
chr9:91625113..91629078hg19UCSC Ensembl
Cytoband9q22.1
Allele length
AssemblyAllele length
hg383966
hg193966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4175430
Supporting Variants
Samples
Known GenesSHC3
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)nssv15937449
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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