A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15953821



Internal ID19679075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:25307840..25409195hg38UCSC Ensembl
chr13:25881978..25983333hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg38101356
hg19101356
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4230498
Supporting Variants
Samples
Known GenesATP8A2, NUPL1
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)nssv15953821
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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