A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4535147



Internal ID19918515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:13827878..14212879hg38UCSC Ensembl
chr21:15200199..15585200hg19UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38385002
hg19385002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15966973
Samples
Known GenesANKRD20A11P, C21orf15, LIPI
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)nsv4535147
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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