A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15966649



Internal ID19691903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:16512949..16562734hg38UCSC Ensembl
chr21:17885269..17935054hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg3849786
hg1949786
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4287610
Supporting Variants
Samples
Known GenesLINC00478, MIR99A, MIRLET7C
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)nssv15966649
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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