A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15932694



Internal ID20004634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:81527734..81529628hg38UCSC Ensembl
chr8:82439969..82441863hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg381895
hg191895
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4163972
Supporting Variants
Samples
Known GenesFABP12
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)nssv15932694
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000092


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