A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4277188



Internal ID20115162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:28784156..28936167hg38UCSC Ensembl
chr21:30156478..30308489hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg38152012
hg19152012
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15964963
Samples
Known GenesLTN1, N6AMT1
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)nsv4277188
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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