A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15827533



Internal ID19899619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:73508127..73518268hg38UCSC Ensembl
chr15:73800468..73810609hg19UCSC Ensembl
Cytoband15q24.1
Allele length
AssemblyAllele length
hg3810142
hg1910142
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4250304
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 ID32461652
Accession Number(s)nssv15827533
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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