A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4283103



Internal ID20117758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43950580..44658488hg38UCSC Ensembl
chr21:45370461..46078405hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38707909
hg19707945
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15966704
Samples
Known GenesAGPAT3, AIRE, C21orf2, C21orf33, C21orf90, DNMT3L, ICOSLG, KRTAP10-1, KRTAP10-10, KRTAP10-11, KRTAP10-2, KRTAP10-3, KRTAP10-4, KRTAP10-5, KRTAP10-6, KRTAP10-7, KRTAP10-8, KRTAP10-9, KRTAP12-3, KRTAP12-4, LRRC3, LRRC3-AS1, PFKL, PWP2, TRAPPC10, TRPM2, TSPEAR, TSPEAR-AS1
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)nsv4283103
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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