A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15827527



Internal ID19552927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:73458539..73469161hg38UCSC Ensembl
chr15:73750880..73761502hg19UCSC Ensembl
Cytoband15q24.1
Allele length
AssemblyAllele length
hg3810623
hg1910623
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4239390
Supporting Variants
Samples
Known GenesC15orf60
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 ID12345678
Accession Number(s)nssv15827527
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