A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4163883



Internal ID20036480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:66810412..66872200hg38UCSC Ensembl
chr8:67722647..67784435hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg3861789
hg1961789
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15984677
Samples
Known GenesC8orf44-SGK3, MCMDC2, SGK3
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 ID12345678
Accession Number(s)nsv4163883
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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