A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4086422



Internal ID20326986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:174213037..174214957hg38UCSC Ensembl
chr2:175077765..175079685hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg381921
hg191921
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15872656
Samples
Known GenesOLA1
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)nsv4086422
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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