A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4551652



Internal ID19934841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:67652996..67652997hg38UCSC Ensembl
chr12:68046776..68046777hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38178
hg19178
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15999561
Samples
Known GenesDYRK2
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)nsv4551652
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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