A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4282042



Internal ID20117290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:32263505..32391907hg38UCSC Ensembl
chr21:33635816..33764216hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38128403
hg19128401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15861224
Samples
Known GenesMIS18A, MRAP, SNORA80, URB1
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)nsv4282042
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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