A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4160122



Internal ID20380430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:86097891..86163686hg38UCSC Ensembl
chr8:87110120..87175915hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg3865796
hg1965796
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15984953
Samples
Known GenesATP6V0D2
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)nsv4160122
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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