A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4561010



Internal ID20290894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:29536274..29536275hg38UCSC Ensembl
chr2:29759140..29759141hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg383017
hg193017
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16035826
Samples
Known GenesALK
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)nsv4561010
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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