A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15797080



Internal ID19869166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:93643955..93645254hg38UCSC Ensembl
chr10:95403712..95405011hg19UCSC Ensembl
Cytoband10q23.33
Allele length
AssemblyAllele length
hg381300
hg191300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4174957
Supporting Variants
Samples
Known GenesPDE6C
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)nssv15797080
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000092


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