A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16087363



Internal ID20159319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:97362666..97362667hg38UCSC Ensembl
chr9:100124948..100124949hg19UCSC Ensembl
Cytoband9q22.33
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4487059
Supporting Variants
Samples
Known GenesCCDC180, LOC100499484-C9ORF174
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)nssv16087363
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.012647


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