A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15793733



Internal ID19865816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:45843152..45879552hg38UCSC Ensembl
chr10:46338600..46375000hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3836401
hg1936401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4177203
Supporting Variants
Samples
Known GenesAGAP4
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)nssv15793733
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.233475


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