A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15796040



Internal ID19868126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:73249923..73250014hg38UCSC Ensembl
chr10:75009681..75009772hg19UCSC Ensembl
Cytoband10q22.2
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4527307
Supporting Variants
Samples
Known GenesDNAJC9-AS1, MRPS16
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)nssv15796040
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002818


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