A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4092061



Internal ID20331094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:206239905..206243548hg38UCSC Ensembl
chr2:207104629..207108272hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg383644
hg193644
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15876983
Samples
Known GenesGPR1-AS
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)nsv4092061
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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