A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15966790



Internal ID19692044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46008428..46181422hg38UCSC Ensembl
chr21:47428342..47601336hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38172995
hg19172995
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4273892
Supporting Variants
Samples
Known GenesCOL6A2, FTCD, SPATC1L
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)nssv15966790
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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