A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4560696



Internal ID20290579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:236372795..236372796hg38UCSC Ensembl
chr2:237281438..237281439hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg38806
hg19806
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16041981
Samples
Known GenesIQCA1
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)nsv4560696
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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