A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4154429



Internal ID20376308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:130885622..130887580hg38UCSC Ensembl
chr8:131897868..131899826hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg381959
hg191959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15933985
Samples
Known GenesADCY8
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)nsv4154429
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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