A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15797084



Internal ID19522484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:93680818..93681150hg38UCSC Ensembl
chr10:95440575..95440907hg19UCSC Ensembl
Cytoband10q23.33
Allele length
AssemblyAllele length
hg38333
hg19333
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4179609
Supporting Variants
Samples
Known GenesFRA10AC1
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)nssv15797084
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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