A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4570831



Internal ID19954026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42202818..42203559hg38UCSC Ensembl
chr21:43622928..43623669hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38742
hg19742
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16091287
Samples
Known GenesABCG1
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)nsv4570831
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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