A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15924235



Internal ID19996175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:1946410..1948474hg38UCSC Ensembl
chr8:1894576..1896640hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg382065
hg192065
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4157189
Supporting Variants
Samples
Known GenesARHGEF10
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)nssv15924235
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000092


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