A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4164710



Internal ID20383761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:14217393..14878655hg38UCSC Ensembl
chr8:14074902..14736164hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38661263
hg19661263
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2551n166
Supporting Variantsnssv15927544
Samples
Known GenesMIR383, SGCZ
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)nsv4164710
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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