A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15789341



Internal ID19514705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44750435..44895696hg38UCSC Ensembl
chr21:46170350..46315611hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38145262
hg19145262
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4341547
Supporting Variants
Samples
Known GenesITGB2, PTTG1IP, SUMO3, UBE2G2
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nssv15789341
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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