A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4080651



Internal ID19976035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:200300145..200761704hg38UCSC Ensembl
chr2:201164868..201626427hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38461560
hg19461560
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15971072
Samples
Known GenesAOX1, AOX2P, KCTD18, LOC100507140, SGOL2, SPATS2L
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)nsv4080651
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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