A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4163216



Internal ID20382679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:6662034..6757550hg38UCSC Ensembl
chr8:6519555..6615071hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3895517
hg1995517
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15927370
Samples
Known GenesAGPAT5, MIR4659A, MIR4659B
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)nsv4163216
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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